SNP Links for Protein (Select 767983310) - SNP

Select item 14906454321.

rs1490645432 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 15:82830894 (GRCh38)
15:83499646 (GRCh37)
Canonical SPDI:: NC_000015.10:82830893:C:A,NC_000015.10:82830893:C:T
Gene:: WHAMM (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.82830894C>A, NC_000015.10:g.82830894C>T, NC_000015.9:g.83499646C>A, NC_000015.9:g.83499646C>T, XM_005272421.5:c.1298C>A, XM_005272421.5:c.1298C>T, XM_005272421.4:c.1298C>A, XM_005272421.4:c.1298C>T, XM_005272421.3:c.1298C>A, XM_005272421.3:c.1298C>T, XM_005272421.2:c.1298C>A, XM_005272421.2:c.1298C>T, XM_005272421.1:c.1298C>A, XM_005272421.1:c.1298C>T, XM_005272423.5:c.1247C>A, XM_005272423.5:c.1247C>T, XM_005272423.4:c.1247C>A, XM_005272423.4:c.1247C>T, XM_005272423.3:c.1247C>A, XM_005272423.3:c.1247C>T, XM_005272423.2:c.1247C>A, XM_005272423.2:c.1247C>T, XM_005272423.1:c.1247C>A, XM_005272423.1:c.1247C>T, XM_011521232.4:c.1118C>A, XM_011521232.4:c.1118C>T, XM_011521232.3:c.1118C>A, XM_011521232.3:c.1118C>T, XM_011521232.2:c.1118C>A, XM_011521232.2:c.1118C>T, XM_011521232.1:c.1118C>A, XM_011521232.1:c.1118C>T, NM_001080435.3:c.1937C>A, NM_001080435.3:c.1937C>T, NM_001080435.2:c.1937C>A, NM_001080435.2:c.1937C>T, NM_001080435.1:c.1937C>A, NM_001080435.1:c.1937C>T, XP_005272478.1:p.Pro433Gln, XP_005272478.1:p.Pro433Leu, XP_005272480.1:p.Pro416Gln, XP_005272480.1:p.Pro416Leu, XP_011519534.1:p.Pro373Gln, XP_011519534.1:p.Pro373Leu, NP_001073904.1:p.Pro646Gln, NP_001073904.1:p.Pro646Leu

Select item 14905384632.

rs1490538463 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 15:82833506 (GRCh38)
15:83502258 (GRCh37)
Canonical SPDI:: NC_000015.10:82833505:T:G
Gene:: WHAMM (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0.000047/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.82833506T>G, NC_000015.9:g.83502258T>G, XM_005272421.5:c.1761T>G, XM_005272421.4:c.1761T>G, XM_005272421.3:c.1761T>G, XM_005272421.2:c.1761T>G, XM_005272421.1:c.1761T>G, XM_005272423.5:c.1710T>G, XM_005272423.4:c.1710T>G, XM_005272423.3:c.1710T>G, XM_005272423.2:c.1710T>G, XM_005272423.1:c.1710T>G, XM_011521232.4:c.1581T>G, XM_011521232.3:c.1581T>G, XM_011521232.2:c.1581T>G, XM_011521232.1:c.1581T>G, NM_001080435.3:c.2400T>G, NM_001080435.2:c.2400T>G, NM_001080435.1:c.2400T>G, XP_005272478.1:p.Asp587Glu, XP_005272480.1:p.Asp570Glu, XP_011519534.1:p.Asp527Glu, NP_001073904.1:p.Asp800Glu

Select item 14895334343.

rs1489533434 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:82833443 (GRCh38)
15:83502195 (GRCh37)
Canonical SPDI:: NC_000015.10:82833442:G:A
Gene:: WHAMM (Varview)
Functional Consequence:: genic_downstream_transcript_variant,coding_sequence_variant,synonymous_variant
HGVS:: NC_000015.10:g.82833443G>A, NC_000015.9:g.83502195G>A, XM_005272421.5:c.1698G>A, XM_005272421.4:c.1698G>A, XM_005272421.3:c.1698G>A, XM_005272421.2:c.1698G>A, XM_005272421.1:c.1698G>A, XM_005272423.5:c.1647G>A, XM_005272423.4:c.1647G>A, XM_005272423.3:c.1647G>A, XM_005272423.2:c.1647G>A, XM_005272423.1:c.1647G>A, XM_011521232.4:c.1518G>A, XM_011521232.3:c.1518G>A, XM_011521232.2:c.1518G>A, XM_011521232.1:c.1518G>A, NM_001080435.3:c.2337G>A, NM_001080435.2:c.2337G>A, NM_001080435.1:c.2337G>A

Select item 14865014634.

rs1486501463 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 15:82818041 (GRCh38)
15:83486793 (GRCh37)
Canonical SPDI:: NC_000015.10:82818040:A:C
Gene:: WHAMM (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000015.10:g.82818041A>C, NC_000015.9:g.83486793A>C, XM_005272421.5:c.417A>C, XM_005272421.4:c.417A>C, XM_005272421.3:c.417A>C, XM_005272421.2:c.417A>C, XM_005272421.1:c.417A>C, XM_005272423.5:c.366A>C, XM_005272423.4:c.366A>C, XM_005272423.3:c.366A>C, XM_005272423.2:c.366A>C, XM_005272423.1:c.366A>C, XM_011521232.4:c.237A>C, XM_011521232.3:c.237A>C, XM_011521232.2:c.237A>C, XM_011521232.1:c.237A>C, NM_001080435.3:c.1056A>C, NM_001080435.2:c.1056A>C, NM_001080435.1:c.1056A>C, XM_047432153.1:c.1056A>C, XM_047432154.1:c.1056A>C, XP_005272478.1:p.Arg139Ser, XP_005272480.1:p.Arg122Ser, XP_011519534.1:p.Arg79Ser, NP_001073904.1:p.Arg352Ser, XP_047288109.1:p.Arg352Ser, XP_047288110.1:p.Arg352Ser

Select item 14833298885.

rs1483329888 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:82823187 (GRCh38)
15:83491939 (GRCh37)
Canonical SPDI:: NC_000015.10:82823186:A:G
Gene:: WHAMM (Varview)
Functional Consequence:: missense_variant,genic_downstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.82823187A>G, NC_000015.9:g.83491939A>G, XM_005272421.5:c.719A>G, XM_005272421.4:c.719A>G, XM_005272421.3:c.719A>G, XM_005272421.2:c.719A>G, XM_005272421.1:c.719A>G, XM_005272423.5:c.668A>G, XM_005272423.4:c.668A>G, XM_005272423.3:c.668A>G, XM_005272423.2:c.668A>G, XM_005272423.1:c.668A>G, XM_011521232.4:c.539A>G, XM_011521232.3:c.539A>G, XM_011521232.2:c.539A>G, XM_011521232.1:c.539A>G, NM_001080435.3:c.1358A>G, NM_001080435.2:c.1358A>G, NM_001080435.1:c.1358A>G, XM_047432153.1:c.1358A>G, XP_005272478.1:p.Asp240Gly, XP_005272480.1:p.Asp223Gly, XP_011519534.1:p.Asp180Gly, NP_001073904.1:p.Asp453Gly, XP_047288109.1:p.Asp453Gly

Select item 14813150136.

rs1481315013 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 15:82833312 (GRCh38)
15:83502064 (GRCh37)
Canonical SPDI:: NC_000015.10:82833311:C:A
Gene:: WHAMM (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.82833312C>A, NC_000015.9:g.83502064C>A, XM_005272421.5:c.1567C>A, XM_005272421.4:c.1567C>A, XM_005272421.3:c.1567C>A, XM_005272421.2:c.1567C>A, XM_005272421.1:c.1567C>A, XM_005272423.5:c.1516C>A, XM_005272423.4:c.1516C>A, XM_005272423.3:c.1516C>A, XM_005272423.2:c.1516C>A, XM_005272423.1:c.1516C>A, XM_011521232.4:c.1387C>A, XM_011521232.3:c.1387C>A, XM_011521232.2:c.1387C>A, XM_011521232.1:c.1387C>A, NM_001080435.3:c.2206C>A, NM_001080435.2:c.2206C>A, NM_001080435.1:c.2206C>A, XP_005272478.1:p.His523Asn, XP_005272480.1:p.His506Asn, XP_011519534.1:p.His463Asn, NP_001073904.1:p.His736Asn

Select item 14807866597.

rs1480786659 [Homo sapiens]

Variant type:: INS
Alleles:: ->T [Show Flanks]
Chromosome:: 15:82833446 (GRCh38)
15:83502199 (GRCh37)
Canonical SPDI:: NC_000015.10:82833446::T
Gene:: WHAMM (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000015.10:g.82833446_82833447insT, NC_000015.9:g.83502198_83502199insT, XM_005272421.5:c.1701_1702insT, XM_005272421.4:c.1701_1702insT, XM_005272421.3:c.1701_1702insT, XM_005272421.2:c.1701_1702insT, XM_005272421.1:c.1701_1702insT, XM_005272423.5:c.1650_1651insT, XM_005272423.4:c.1650_1651insT, XM_005272423.3:c.1650_1651insT, XM_005272423.2:c.1650_1651insT, XM_005272423.1:c.1650_1651insT, XM_011521232.4:c.1521_1522insT, XM_011521232.3:c.1521_1522insT, XM_011521232.2:c.1521_1522insT, XM_011521232.1:c.1521_1522insT, NM_001080435.3:c.2340_2341insT, NM_001080435.2:c.2340_2341insT, NM_001080435.1:c.2340_2341insT, XP_005272478.1:p.Ile568fs, XP_005272480.1:p.Ile551fs, XP_011519534.1:p.Ile508fs, NP_001073904.1:p.Ile781fs

Select item 14789704468.

rs1478970446 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 15:82830796 (GRCh38)
15:83499548 (GRCh37)
Canonical SPDI:: NC_000015.10:82830795:T:C
Gene:: WHAMM (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000014/2 (GnomAD)
C=0.000015/4 (TOPMED)
HGVS:: NC_000015.10:g.82830796T>C, NC_000015.9:g.83499548T>C, XM_005272421.5:c.1200T>C, XM_005272421.4:c.1200T>C, XM_005272421.3:c.1200T>C, XM_005272421.2:c.1200T>C, XM_005272421.1:c.1200T>C, XM_005272423.5:c.1149T>C, XM_005272423.4:c.1149T>C, XM_005272423.3:c.1149T>C, XM_005272423.2:c.1149T>C, XM_005272423.1:c.1149T>C, XM_011521232.4:c.1020T>C, XM_011521232.3:c.1020T>C, XM_011521232.2:c.1020T>C, XM_011521232.1:c.1020T>C, NM_001080435.3:c.1839T>C, NM_001080435.2:c.1839T>C, NM_001080435.1:c.1839T>C

Select item 14769620679.

rs1476962067 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 15:82819341 (GRCh38)
15:83488093 (GRCh37)
Canonical SPDI:: NC_000015.10:82819340:C:A,NC_000015.10:82819340:C:T
Gene:: WHAMM (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: T=0.00001/1 (GnomAD_exomes)
A=0.00004/1 (TOMMO)
HGVS:: NC_000015.10:g.82819341C>A, NC_000015.10:g.82819341C>T, NC_000015.9:g.83488093C>A, NC_000015.9:g.83488093C>T, XM_005272421.5:c.484C>A, XM_005272421.5:c.484C>T, XM_005272421.4:c.484C>A, XM_005272421.4:c.484C>T, XM_005272421.3:c.484C>A, XM_005272421.3:c.484C>T, XM_005272421.2:c.484C>A, XM_005272421.2:c.484C>T, XM_005272421.1:c.484C>A, XM_005272421.1:c.484C>T, XM_005272423.5:c.433C>A, XM_005272423.5:c.433C>T, XM_005272423.4:c.433C>A, XM_005272423.4:c.433C>T, XM_005272423.3:c.433C>A, XM_005272423.3:c.433C>T, XM_005272423.2:c.433C>A, XM_005272423.2:c.433C>T, XM_005272423.1:c.433C>A, XM_005272423.1:c.433C>T, XM_011521232.4:c.304C>A, XM_011521232.4:c.304C>T, XM_011521232.3:c.304C>A, XM_011521232.3:c.304C>T, XM_011521232.2:c.304C>A, XM_011521232.2:c.304C>T, XM_011521232.1:c.304C>A, XM_011521232.1:c.304C>T, NM_001080435.3:c.1123C>A, NM_001080435.3:c.1123C>T, NM_001080435.2:c.1123C>A, NM_001080435.2:c.1123C>T, NM_001080435.1:c.1123C>A, NM_001080435.1:c.1123C>T, XM_047432153.1:c.1123C>A, XM_047432153.1:c.1123C>T, XM_047432154.1:c.1123C>A, XM_047432154.1:c.1123C>T, XP_005272478.1:p.Gln162Lys, XP_005272478.1:p.Gln162Ter, XP_005272480.1:p.Gln145Lys, XP_005272480.1:p.Gln145Ter, XP_011519534.1:p.Gln102Lys, XP_011519534.1:p.Gln102Ter, NP_001073904.1:p.Gln375Lys, NP_001073904.1:p.Gln375Ter, XP_047288109.1:p.Gln375Lys, XP_047288109.1:p.Gln375Ter, XP_047288110.1:p.Gln375Lys, XP_047288110.1:p.Gln375Ter

Select item 147574084210.

rs1475740842 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:82817645 (GRCh38)
15:83486397 (GRCh37)
Canonical SPDI:: NC_000015.10:82817644:C:T
Gene:: WHAMM (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000015.10:g.82817645C>T, NC_000015.9:g.83486397C>T, XM_011521232.4:c.58C>T, XM_011521232.3:c.58C>T, XM_011521232.2:c.58C>T, XM_011521232.1:c.58C>T, XP_011519534.1:p.His20Tyr

Select item 147567342011.

rs1475673420 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:82831040 (GRCh38)
15:83499792 (GRCh37)
Canonical SPDI:: NC_000015.10:82831039:G:A
Gene:: WHAMM (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
HGVS:: NC_000015.10:g.82831040G>A, NC_000015.9:g.83499792G>A, XM_005272421.5:c.1444G>A, XM_005272421.4:c.1444G>A, XM_005272421.3:c.1444G>A, XM_005272421.2:c.1444G>A, XM_005272421.1:c.1444G>A, XM_005272423.5:c.1393G>A, XM_005272423.4:c.1393G>A, XM_005272423.3:c.1393G>A, XM_005272423.2:c.1393G>A, XM_005272423.1:c.1393G>A, XM_011521232.4:c.1264G>A, XM_011521232.3:c.1264G>A, XM_011521232.2:c.1264G>A, XM_011521232.1:c.1264G>A, NM_001080435.3:c.2083G>A, NM_001080435.2:c.2083G>A, NM_001080435.1:c.2083G>A, XP_005272478.1:p.Glu482Lys, XP_005272480.1:p.Glu465Lys, XP_011519534.1:p.Glu422Lys, NP_001073904.1:p.Glu695Lys

Select item 147502062812.

rs1475020628 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:82826808 (GRCh38)
15:83495560 (GRCh37)
Canonical SPDI:: NC_000015.10:82826807:C:T
Gene:: WHAMM (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,downstream_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
T=0.000013/2 (GnomAD_exomes)
HGVS:: NC_000015.10:g.82826808C>T, NC_000015.9:g.83495560C>T, XM_005272421.5:c.964C>T, XM_005272421.4:c.964C>T, XM_005272421.3:c.964C>T, XM_005272421.2:c.964C>T, XM_005272421.1:c.964C>T, XM_005272423.5:c.913C>T, XM_005272423.4:c.913C>T, XM_005272423.3:c.913C>T, XM_005272423.2:c.913C>T, XM_005272423.1:c.913C>T, XM_011521232.4:c.784C>T, XM_011521232.3:c.784C>T, XM_011521232.2:c.784C>T, XM_011521232.1:c.784C>T, NM_001080435.3:c.1603C>T, NM_001080435.2:c.1603C>T, NM_001080435.1:c.1603C>T, XP_005272478.1:p.Arg322Cys, XP_005272480.1:p.Arg305Cys, XP_011519534.1:p.Arg262Cys, NP_001073904.1:p.Arg535Cys

Select item 147390896813.

rs1473908968 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 15:82817998 (GRCh38)
15:83486750 (GRCh37)
Canonical SPDI:: NC_000015.10:82817997:A:C
Gene:: WHAMM (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000015.10:g.82817998A>C, NC_000015.9:g.83486750A>C, XM_005272421.5:c.374A>C, XM_005272421.4:c.374A>C, XM_005272421.3:c.374A>C, XM_005272421.2:c.374A>C, XM_005272421.1:c.374A>C, XM_005272423.5:c.323A>C, XM_005272423.4:c.323A>C, XM_005272423.3:c.323A>C, XM_005272423.2:c.323A>C, XM_005272423.1:c.323A>C, XM_011521232.4:c.194A>C, XM_011521232.3:c.194A>C, XM_011521232.2:c.194A>C, XM_011521232.1:c.194A>C, NM_001080435.3:c.1013A>C, NM_001080435.2:c.1013A>C, NM_001080435.1:c.1013A>C, XM_047432153.1:c.1013A>C, XM_047432154.1:c.1013A>C, XP_005272478.1:p.Lys125Thr, XP_005272480.1:p.Lys108Thr, XP_011519534.1:p.Lys65Thr, NP_001073904.1:p.Lys338Thr, XP_047288109.1:p.Lys338Thr, XP_047288110.1:p.Lys338Thr

Select item 147368159714.

rs1473681597 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:82831007 (GRCh38)
15:83499759 (GRCh37)
Canonical SPDI:: NC_000015.10:82831006:C:T
Gene:: WHAMM (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.82831007C>T, NC_000015.9:g.83499759C>T, XM_005272421.5:c.1411C>T, XM_005272421.4:c.1411C>T, XM_005272421.3:c.1411C>T, XM_005272421.2:c.1411C>T, XM_005272421.1:c.1411C>T, XM_005272423.5:c.1360C>T, XM_005272423.4:c.1360C>T, XM_005272423.3:c.1360C>T, XM_005272423.2:c.1360C>T, XM_005272423.1:c.1360C>T, XM_011521232.4:c.1231C>T, XM_011521232.3:c.1231C>T, XM_011521232.2:c.1231C>T, XM_011521232.1:c.1231C>T, NM_001080435.3:c.2050C>T, NM_001080435.2:c.2050C>T, NM_001080435.1:c.2050C>T, XP_005272478.1:p.Gln471Ter, XP_005272480.1:p.Gln454Ter, XP_011519534.1:p.Gln411Ter, NP_001073904.1:p.Gln684Ter

Select item 147045765315.

rs1470457653 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 15:82818033 (GRCh38)
15:83486785 (GRCh37)
Canonical SPDI:: NC_000015.10:82818032:C:A
Gene:: WHAMM (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000015.10:g.82818033C>A, NC_000015.9:g.83486785C>A, XM_005272421.5:c.409C>A, XM_005272421.4:c.409C>A, XM_005272421.3:c.409C>A, XM_005272421.2:c.409C>A, XM_005272421.1:c.409C>A, XM_005272423.5:c.358C>A, XM_005272423.4:c.358C>A, XM_005272423.3:c.358C>A, XM_005272423.2:c.358C>A, XM_005272423.1:c.358C>A, XM_011521232.4:c.229C>A, XM_011521232.3:c.229C>A, XM_011521232.2:c.229C>A, XM_011521232.1:c.229C>A, NM_001080435.3:c.1048C>A, NM_001080435.2:c.1048C>A, NM_001080435.1:c.1048C>A, XM_047432153.1:c.1048C>A, XM_047432154.1:c.1048C>A, XP_005272478.1:p.Leu137Ile, XP_005272480.1:p.Leu120Ile, XP_011519534.1:p.Leu77Ile, NP_001073904.1:p.Leu350Ile, XP_047288109.1:p.Leu350Ile, XP_047288110.1:p.Leu350Ile

Select item 147008651416.

rs1470086514 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 15:82833300 (GRCh38)
15:83502052 (GRCh37)
Canonical SPDI:: NC_000015.10:82833299:G:A,NC_000015.10:82833299:G:T
Gene:: WHAMM (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.82833300G>A, NC_000015.10:g.82833300G>T, NC_000015.9:g.83502052G>A, NC_000015.9:g.83502052G>T, XM_005272421.5:c.1555G>A, XM_005272421.5:c.1555G>T, XM_005272421.4:c.1555G>A, XM_005272421.4:c.1555G>T, XM_005272421.3:c.1555G>A, XM_005272421.3:c.1555G>T, XM_005272421.2:c.1555G>A, XM_005272421.2:c.1555G>T, XM_005272421.1:c.1555G>A, XM_005272421.1:c.1555G>T, XM_005272423.5:c.1504G>A, XM_005272423.5:c.1504G>T, XM_005272423.4:c.1504G>A, XM_005272423.4:c.1504G>T, XM_005272423.3:c.1504G>A, XM_005272423.3:c.1504G>T, XM_005272423.2:c.1504G>A, XM_005272423.2:c.1504G>T, XM_005272423.1:c.1504G>A, XM_005272423.1:c.1504G>T, XM_011521232.4:c.1375G>A, XM_011521232.4:c.1375G>T, XM_011521232.3:c.1375G>A, XM_011521232.3:c.1375G>T, XM_011521232.2:c.1375G>A, XM_011521232.2:c.1375G>T, XM_011521232.1:c.1375G>A, XM_011521232.1:c.1375G>T, NM_001080435.3:c.2194G>A, NM_001080435.3:c.2194G>T, NM_001080435.2:c.2194G>A, NM_001080435.2:c.2194G>T, NM_001080435.1:c.2194G>A, NM_001080435.1:c.2194G>T, XP_005272478.1:p.Val519Met, XP_005272478.1:p.Val519Leu, XP_005272480.1:p.Val502Met, XP_005272480.1:p.Val502Leu, XP_011519534.1:p.Val459Met, XP_011519534.1:p.Val459Leu, NP_001073904.1:p.Val732Met, NP_001073904.1:p.Val732Leu

Select item 146774550817.

rs1467745508 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 15:82826821 (GRCh38)
15:83495574 (GRCh37)
Canonical SPDI:: NC_000015.10:82826821:CC:CCC
Gene:: WHAMM (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant,downstream_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCC=0./0 (ALFA)
C=0.000021/3 (GnomAD)
C=0.000025/4 (GnomAD_exomes)
C=0.000026/7 (TOPMED)
HGVS:: NC_000015.10:g.82826823dup, NC_000015.9:g.83495575dup, XM_005272421.5:c.979dup, XM_005272421.4:c.979dup, XM_005272421.3:c.979dup, XM_005272421.2:c.979dup, XM_005272421.1:c.979dup, XM_005272423.5:c.928dup, XM_005272423.4:c.928dup, XM_005272423.3:c.928dup, XM_005272423.2:c.928dup, XM_005272423.1:c.928dup, XM_011521232.4:c.799dup, XM_011521232.3:c.799dup, XM_011521232.2:c.799dup, XM_011521232.1:c.799dup, NM_001080435.3:c.1618dup, NM_001080435.2:c.1618dup, NM_001080435.1:c.1618dup, XP_005272478.1:p.Gln327fs, XP_005272480.1:p.Gln310fs, XP_011519534.1:p.Gln267fs, NP_001073904.1:p.Gln540fs

Select item 146470337118.

rs1464703371 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 15:82830651 (GRCh38)
15:83499403 (GRCh37)
Canonical SPDI:: NC_000015.10:82830650:C:G,NC_000015.10:82830650:C:T
Gene:: WHAMM (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000011/3 (TOPMED)
HGVS:: NC_000015.10:g.82830651C>G, NC_000015.10:g.82830651C>T, NC_000015.9:g.83499403C>G, NC_000015.9:g.83499403C>T, XM_005272421.5:c.1055C>G, XM_005272421.5:c.1055C>T, XM_005272421.4:c.1055C>G, XM_005272421.4:c.1055C>T, XM_005272421.3:c.1055C>G, XM_005272421.3:c.1055C>T, XM_005272421.2:c.1055C>G, XM_005272421.2:c.1055C>T, XM_005272421.1:c.1055C>G, XM_005272421.1:c.1055C>T, XM_005272423.5:c.1004C>G, XM_005272423.5:c.1004C>T, XM_005272423.4:c.1004C>G, XM_005272423.4:c.1004C>T, XM_005272423.3:c.1004C>G, XM_005272423.3:c.1004C>T, XM_005272423.2:c.1004C>G, XM_005272423.2:c.1004C>T, XM_005272423.1:c.1004C>G, XM_005272423.1:c.1004C>T, XM_011521232.4:c.875C>G, XM_011521232.4:c.875C>T, XM_011521232.3:c.875C>G, XM_011521232.3:c.875C>T, XM_011521232.2:c.875C>G, XM_011521232.2:c.875C>T, XM_011521232.1:c.875C>G, XM_011521232.1:c.875C>T, NM_001080435.3:c.1694C>G, NM_001080435.3:c.1694C>T, NM_001080435.2:c.1694C>G, NM_001080435.2:c.1694C>T, NM_001080435.1:c.1694C>G, NM_001080435.1:c.1694C>T, XP_005272478.1:p.Pro352Arg, XP_005272478.1:p.Pro352Leu, XP_005272480.1:p.Pro335Arg, XP_005272480.1:p.Pro335Leu, XP_011519534.1:p.Pro292Arg, XP_011519534.1:p.Pro292Leu, NP_001073904.1:p.Pro565Arg, NP_001073904.1:p.Pro565Leu

Select item 146282291919.

rs1462822919 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 15:82819342 (GRCh38)
15:83488094 (GRCh37)
Canonical SPDI:: NC_000015.10:82819341:A:C
Gene:: WHAMM (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000011/3 (TOPMED)
HGVS:: NC_000015.10:g.82819342A>C, NC_000015.9:g.83488094A>C, XM_005272421.5:c.485A>C, XM_005272421.4:c.485A>C, XM_005272421.3:c.485A>C, XM_005272421.2:c.485A>C, XM_005272421.1:c.485A>C, XM_005272423.5:c.434A>C, XM_005272423.4:c.434A>C, XM_005272423.3:c.434A>C, XM_005272423.2:c.434A>C, XM_005272423.1:c.434A>C, XM_011521232.4:c.305A>C, XM_011521232.3:c.305A>C, XM_011521232.2:c.305A>C, XM_011521232.1:c.305A>C, NM_001080435.3:c.1124A>C, NM_001080435.2:c.1124A>C, NM_001080435.1:c.1124A>C, XM_047432153.1:c.1124A>C, XM_047432154.1:c.1124A>C, XP_005272478.1:p.Gln162Pro, XP_005272480.1:p.Gln145Pro, XP_011519534.1:p.Gln102Pro, NP_001073904.1:p.Gln375Pro, XP_047288109.1:p.Gln375Pro, XP_047288110.1:p.Gln375Pro

Select item 146127776220.

rs1461277762 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:82818075 (GRCh38)
15:83486827 (GRCh37)
Canonical SPDI:: NC_000015.10:82818074:G:A
Gene:: WHAMM (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000015.10:g.82818075G>A, NC_000015.9:g.83486827G>A, XM_005272421.5:c.451G>A, XM_005272421.4:c.451G>A, XM_005272421.3:c.451G>A, XM_005272421.2:c.451G>A, XM_005272421.1:c.451G>A, XM_005272423.5:c.400G>A, XM_005272423.4:c.400G>A, XM_005272423.3:c.400G>A, XM_005272423.2:c.400G>A, XM_005272423.1:c.400G>A, XM_011521232.4:c.271G>A, XM_011521232.3:c.271G>A, XM_011521232.2:c.271G>A, XM_011521232.1:c.271G>A, NM_001080435.3:c.1090G>A, NM_001080435.2:c.1090G>A, NM_001080435.1:c.1090G>A, XM_047432153.1:c.1090G>A, XM_047432154.1:c.1090G>A, XP_005272478.1:p.Glu151Lys, XP_005272480.1:p.Glu134Lys, XP_011519534.1:p.Glu91Lys, NP_001073904.1:p.Glu364Lys, XP_047288109.1:p.Glu364Lys, XP_047288110.1:p.Glu364Lys

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Result Filters

Clinical Significance

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Global MAF

Custom range

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Items: 1 to 20 of 580

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