SNP Links for Protein (Select 1034572430) - SNP

Links from Protein

Items: 1 to 20 of 960

<< First< Prev

Page of 48

Next >Last >>

Select item 14894934711.

rs1489493471 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:61265167 (GRCh38)
11:61032639 (GRCh37)
Canonical SPDI:: NC_000011.10:61265166:T:C
Gene:: VWCE (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000092/15 (GnomAD_exomes)
C=0.000159/42 (TOPMED)
C=0.000193/27 (GnomAD)
HGVS:: NC_000011.10:g.61265167T>C, NC_000011.9:g.61032639T>C, XR_949822.3:n.2270A>G, XR_949822.2:n.2270A>G, XR_949822.1:n.2270A>G, NM_152718.2:c.2011A>G, XM_017017342.2:c.1621A>G, XM_017017342.1:c.1621A>G, XM_006718460.1:c.1987A>G, XM_017017341.1:c.1882A>G, XM_047426550.1:c.1858A>G, XM_006718462.1:c.1831A>G, XM_047426552.1:c.1492A>G, XM_011544817.1:c.1717A>G, XM_047426551.1:c.1702A>G, XM_047426553.1:c.1162A>G, XM_017017344.1:c.1541A>G, NP_689931.2:p.Thr671Ala, XP_016872831.1:p.Thr541Ala, XP_006718523.1:p.Thr663Ala, XP_016872830.1:p.Thr628Ala, XP_047282506.1:p.Thr620Ala, XP_006718525.1:p.Thr611Ala, XP_047282508.1:p.Thr498Ala, XP_011543119.1:p.Thr573Ala, XP_047282507.1:p.Thr568Ala, XP_047282509.1:p.Thr388Ala, XP_016872833.1:p.Tyr514Cys

Select item 14892737442.

rs1489273744 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 11:61290815 (GRCh38)
11:61058287 (GRCh37)
Canonical SPDI:: NC_000011.10:61290814:A:C,NC_000011.10:61290814:A:G
Gene:: VWCE (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_upstream_transcript_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.61290815A>C, NC_000011.10:g.61290815A>G, NC_000011.9:g.61058287A>C, NC_000011.9:g.61058287A>G, XR_949822.3:n.687T>G, XR_949822.3:n.687T>C, XR_949822.2:n.687T>G, XR_949822.2:n.687T>C, XR_949822.1:n.687T>G, XR_949822.1:n.687T>C, NM_152718.2:c.408T>G, NM_152718.2:c.408T>C, XM_017017342.2:c.18T>G, XM_017017342.2:c.18T>C, XM_017017342.1:c.18T>G, XM_017017342.1:c.18T>C, XM_006718460.1:c.408T>G, XM_006718460.1:c.408T>C, XM_017017341.1:c.408T>G, XM_017017341.1:c.408T>C, XM_047426550.1:c.408T>G, XM_047426550.1:c.408T>C, XM_006718462.1:c.408T>G, XM_006718462.1:c.408T>C, XM_047426552.1:c.18T>G, XM_047426552.1:c.18T>C, XM_011544817.1:c.408T>G, XM_011544817.1:c.408T>C, XM_047426551.1:c.408T>G, XM_047426551.1:c.408T>C, XM_017017344.1:c.408T>G, XM_017017344.1:c.408T>C

Select item 14864950623.

rs1486495062 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 11:61259084 (GRCh38)
11:61026556 (GRCh37)
Canonical SPDI:: NC_000011.10:61259083:G:C
Gene:: VWCE (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.61259084G>C, NC_000011.9:g.61026556G>C, NM_152718.2:c.2459C>G, XM_017017342.2:c.2069C>G, XM_017017342.1:c.2069C>G, XM_006718460.1:c.2435C>G, XM_017017341.1:c.2330C>G, XM_047426550.1:c.2306C>G, XM_006718462.1:c.2279C>G, XM_047426552.1:c.1940C>G, XM_011544817.1:c.2165C>G, XM_047426551.1:c.2150C>G, XM_047426553.1:c.1610C>G, NP_689931.2:p.Ala820Gly, XP_016872831.1:p.Ala690Gly, XP_006718523.1:p.Ala812Gly, XP_016872830.1:p.Ala777Gly, XP_047282506.1:p.Ala769Gly, XP_006718525.1:p.Ala760Gly, XP_047282508.1:p.Ala647Gly, XP_011543119.1:p.Ala722Gly, XP_047282507.1:p.Ala717Gly, XP_047282509.1:p.Ala537Gly

Select item 14858886174.

rs1485888617 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:61282796 (GRCh38)
11:61050268 (GRCh37)
Canonical SPDI:: NC_000011.10:61282795:G:A
Gene:: VWCE (Varview)
Functional Consequence:: non_coding_transcript_variant,5_prime_UTR_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.61282796G>A, NC_000011.9:g.61050268G>A, XR_949822.3:n.930C>T, XR_949822.2:n.930C>T, XR_949822.1:n.930C>T, NM_152718.2:c.651C>T, XM_017017342.2:c.261C>T, XM_017017342.1:c.261C>T, XM_006718460.1:c.651C>T, XM_017017341.1:c.651C>T, XM_047426550.1:c.651C>T, XM_006718462.1:c.651C>T, XM_047426552.1:c.261C>T, XM_011544817.1:c.651C>T, XM_047426551.1:c.651C>T, XM_047426553.1:c.-258C>T, XM_017017344.1:c.651C>T

Select item 14853660895.

rs1485366089 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:61280875 (GRCh38)
11:61048347 (GRCh37)
Canonical SPDI:: NC_000011.10:61280874:G:A
Gene:: VWCE (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.61280875G>A, NC_000011.9:g.61048347G>A, XR_949822.3:n.1427C>T, XR_949822.2:n.1427C>T, XR_949822.1:n.1427C>T, NM_152718.2:c.1148C>T, XM_017017342.2:c.758C>T, XM_017017342.1:c.758C>T, XM_006718460.1:c.1148C>T, XM_017017341.1:c.1019C>T, XM_047426550.1:c.1019C>T, XM_006718462.1:c.1148C>T, XM_047426552.1:c.629C>T, XM_011544817.1:c.1148C>T, XM_047426551.1:c.1019C>T, XM_047426553.1:c.299C>T, XM_017017344.1:c.1148C>T, NP_689931.2:p.Pro383Leu, XP_016872831.1:p.Pro253Leu, XP_006718523.1:p.Pro383Leu, XP_016872830.1:p.Pro340Leu, XP_047282506.1:p.Pro340Leu, XP_006718525.1:p.Pro383Leu, XP_047282508.1:p.Pro210Leu, XP_011543119.1:p.Pro383Leu, XP_047282507.1:p.Pro340Leu, XP_047282509.1:p.Pro100Leu, XP_016872833.1:p.Pro383Leu

Select item 14846424426.

rs1484642442 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 11:61274527 (GRCh38)
11:61041999 (GRCh37)
Canonical SPDI:: NC_000011.10:61274526:C:G
Gene:: VWCE (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000011.10:g.61274527C>G, NC_000011.9:g.61041999C>G, XR_949822.3:n.1832G>C, XR_949822.2:n.1832G>C, XR_949822.1:n.1832G>C, NM_152718.2:c.1553G>C, XM_017017342.2:c.1163G>C, XM_017017342.1:c.1163G>C, XM_006718460.1:c.1553G>C, XM_017017341.1:c.1424G>C, XM_047426550.1:c.1424G>C, XM_006718462.1:c.1553G>C, XM_047426552.1:c.1034G>C, XM_047426551.1:c.1424G>C, XM_047426553.1:c.704G>C, NP_689931.2:p.Gly518Ala, XP_016872831.1:p.Gly388Ala, XP_006718523.1:p.Gly518Ala, XP_016872830.1:p.Gly475Ala, XP_047282506.1:p.Gly475Ala, XP_006718525.1:p.Gly518Ala, XP_047282508.1:p.Gly345Ala, XP_047282507.1:p.Gly475Ala, XP_047282509.1:p.Gly235Ala

Select item 14834446907.

rs1483444690 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:61286399 (GRCh38)
11:61053871 (GRCh37)
Canonical SPDI:: NC_000011.10:61286398:C:T
Gene:: VWCE (Varview)
Functional Consequence:: genic_upstream_transcript_variant,synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by cluster
MAF:: T=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.61286399C>T, NC_000011.9:g.61053871C>T, XR_949822.3:n.735G>A, XR_949822.2:n.735G>A, XR_949822.1:n.735G>A, NM_152718.2:c.456G>A, XM_017017342.2:c.66G>A, XM_017017342.1:c.66G>A, XM_006718460.1:c.456G>A, XM_017017341.1:c.456G>A, XM_047426550.1:c.456G>A, XM_006718462.1:c.456G>A, XM_047426552.1:c.66G>A, XM_011544817.1:c.456G>A, XM_047426551.1:c.456G>A, XM_017017344.1:c.456G>A

Select item 14827354318.

rs1482735431 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:61282880 (GRCh38)
11:61050352 (GRCh37)
Canonical SPDI:: NC_000011.10:61282879:G:A
Gene:: VWCE (Varview)
Functional Consequence:: synonymous_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,coding_sequence_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.61282880G>A, NC_000011.9:g.61050352G>A, XR_949822.3:n.846C>T, XR_949822.2:n.846C>T, XR_949822.1:n.846C>T, NM_152718.2:c.567C>T, XM_017017342.2:c.177C>T, XM_017017342.1:c.177C>T, XM_006718460.1:c.567C>T, XM_017017341.1:c.567C>T, XM_047426550.1:c.567C>T, XM_006718462.1:c.567C>T, XM_047426552.1:c.177C>T, XM_011544817.1:c.567C>T, XM_047426551.1:c.567C>T, XM_017017344.1:c.567C>T

Select item 14812620589.

rs1481262058 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 11:61271689 (GRCh38)
11:61039161 (GRCh37)
Canonical SPDI:: NC_000011.10:61271688:A:T
Gene:: VWCE (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.61271689A>T, NC_000011.9:g.61039161A>T, NM_152718.2:c.1771T>A, XM_017017342.2:c.1381T>A, XM_017017342.1:c.1381T>A, XM_017017341.1:c.1642T>A, XM_006718462.1:c.1771T>A, XM_047426552.1:c.1252T>A, XM_047426551.1:c.1642T>A, XM_047426553.1:c.922T>A, NP_689931.2:p.Leu591Ile, XP_016872831.1:p.Leu461Ile, XP_016872830.1:p.Leu548Ile, XP_006718525.1:p.Leu591Ile, XP_047282508.1:p.Leu418Ile, XP_047282507.1:p.Leu548Ile, XP_047282509.1:p.Leu308Ile

Select item 148109983910.

rs1481099839 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 11:61280629 (GRCh38)
11:61048101 (GRCh37)
Canonical SPDI:: NC_000011.10:61280628:C:G
Gene:: VWCE (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.61280629C>G, NC_000011.9:g.61048101C>G, XR_949822.3:n.1598G>C, XR_949822.2:n.1598G>C, XR_949822.1:n.1598G>C, NM_152718.2:c.1319G>C, XM_017017342.2:c.929G>C, XM_017017342.1:c.929G>C, XM_006718460.1:c.1319G>C, XM_017017341.1:c.1190G>C, XM_047426550.1:c.1190G>C, XM_006718462.1:c.1319G>C, XM_047426552.1:c.800G>C, XM_011544817.1:c.1319G>C, XM_047426551.1:c.1190G>C, XM_047426553.1:c.470G>C, XM_017017344.1:c.1319G>C, NP_689931.2:p.Cys440Ser, XP_016872831.1:p.Cys310Ser, XP_006718523.1:p.Cys440Ser, XP_016872830.1:p.Cys397Ser, XP_047282506.1:p.Cys397Ser, XP_006718525.1:p.Cys440Ser, XP_047282508.1:p.Cys267Ser, XP_011543119.1:p.Cys440Ser, XP_047282507.1:p.Cys397Ser, XP_047282509.1:p.Cys157Ser, XP_016872833.1:p.Cys440Ser

Select item 148102055311.

rs1481020553 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:61271720 (GRCh38)
11:61039192 (GRCh37)
Canonical SPDI:: NC_000011.10:61271719:T:C
Gene:: VWCE (Varview)
Functional Consequence:: intron_variant,synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.61271720T>C, NC_000011.9:g.61039192T>C, XR_949822.3:n.2019A>G, XR_949822.2:n.2019A>G, XR_949822.1:n.2019A>G, NM_152718.2:c.1740A>G, XM_017017342.2:c.1350A>G, XM_017017342.1:c.1350A>G, XM_006718460.1:c.1740A>G, XM_017017341.1:c.1611A>G, XM_047426550.1:c.1611A>G, XM_006718462.1:c.1740A>G, XM_047426552.1:c.1221A>G, XM_047426551.1:c.1611A>G, XM_047426553.1:c.891A>G

Select item 148080992512.

rs1480809925 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:61280705 (GRCh38)
11:61048177 (GRCh37)
Canonical SPDI:: NC_000011.10:61280704:T:C
Gene:: VWCE (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.61280705T>C, NC_000011.9:g.61048177T>C, XR_949822.3:n.1522A>G, XR_949822.2:n.1522A>G, XR_949822.1:n.1522A>G, NM_152718.2:c.1243A>G, XM_017017342.2:c.853A>G, XM_017017342.1:c.853A>G, XM_006718460.1:c.1243A>G, XM_017017341.1:c.1114A>G, XM_047426550.1:c.1114A>G, XM_006718462.1:c.1243A>G, XM_047426552.1:c.724A>G, XM_011544817.1:c.1243A>G, XM_047426551.1:c.1114A>G, XM_047426553.1:c.394A>G, XM_017017344.1:c.1243A>G, NP_689931.2:p.Thr415Ala, XP_016872831.1:p.Thr285Ala, XP_006718523.1:p.Thr415Ala, XP_016872830.1:p.Thr372Ala, XP_047282506.1:p.Thr372Ala, XP_006718525.1:p.Thr415Ala, XP_047282508.1:p.Thr242Ala, XP_011543119.1:p.Thr415Ala, XP_047282507.1:p.Thr372Ala, XP_047282509.1:p.Thr132Ala, XP_016872833.1:p.Thr415Ala

Select item 147846734813.

rs1478467348 [Homo sapiens]

Variant type:: INS
Alleles:: ->TGTGACGAATGTG [Show Flanks]
Chromosome:: 11:61282886 (GRCh38)
11:61050359 (GRCh37)
Canonical SPDI:: NC_000011.10:61282886::TGTGACGAATGTG
Gene:: VWCE (Varview)
Functional Consequence:: frameshift_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,coding_sequence_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: TGTGACGAATGTG=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.61282886_61282887insTGTGACGAATGTG, NC_000011.9:g.61050358_61050359insTGTGACGAATGTG, XR_949822.3:n.839_840insCACATTCGTCACA, XR_949822.2:n.839_840insCACATTCGTCACA, XR_949822.1:n.839_840insCACATTCGTCACA, NM_152718.2:c.560_561insCACATTCGTCACA, XM_017017342.2:c.170_171insCACATTCGTCACA, XM_017017342.1:c.170_171insCACATTCGTCACA, XM_006718460.1:c.560_561insCACATTCGTCACA, XM_017017341.1:c.560_561insCACATTCGTCACA, XM_047426550.1:c.560_561insCACATTCGTCACA, XM_006718462.1:c.560_561insCACATTCGTCACA, XM_047426552.1:c.170_171insCACATTCGTCACA, XM_011544817.1:c.560_561insCACATTCGTCACA, XM_047426551.1:c.560_561insCACATTCGTCACA, XM_017017344.1:c.560_561insCACATTCGTCACA, NP_689931.2:p.Pro189fs, XP_016872831.1:p.Pro59fs, XP_006718523.1:p.Pro189fs, XP_016872830.1:p.Pro189fs, XP_047282506.1:p.Pro189fs, XP_006718525.1:p.Pro189fs, XP_047282508.1:p.Pro59fs, XP_011543119.1:p.Pro189fs, XP_047282507.1:p.Pro189fs, XP_016872833.1:p.Pro189fs

Select item 147741912414.

rs1477419124 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 11:61264527 (GRCh38)
11:61031999 (GRCh37)
Canonical SPDI:: NC_000011.10:61264526:G:T
Gene:: VWCE (Varview)
Functional Consequence:: missense_variant,downstream_transcript_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.61264527G>T, NC_000011.9:g.61031999G>T, NM_152718.2:c.2190C>A, XM_017017342.2:c.1800C>A, XM_017017342.1:c.1800C>A, XM_006718460.1:c.2166C>A, XM_017017341.1:c.2061C>A, XM_047426550.1:c.2037C>A, XM_006718462.1:c.2010C>A, XM_047426552.1:c.1671C>A, XM_011544817.1:c.1896C>A, XM_047426551.1:c.1881C>A, XM_047426553.1:c.1341C>A, NP_689931.2:p.Asp730Glu, XP_016872831.1:p.Asp600Glu, XP_006718523.1:p.Asp722Glu, XP_016872830.1:p.Asp687Glu, XP_047282506.1:p.Asp679Glu, XP_006718525.1:p.Asp670Glu, XP_047282508.1:p.Asp557Glu, XP_011543119.1:p.Asp632Glu, XP_047282507.1:p.Asp627Glu, XP_047282509.1:p.Asp447Glu

Select item 147650648615.

rs1476506486 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:61281106 (GRCh38)
11:61048578 (GRCh37)
Canonical SPDI:: NC_000011.10:61281105:G:A
Gene:: VWCE (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000094/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.61281106G>A, NC_000011.9:g.61048578G>A, XR_949822.3:n.1196C>T, XR_949822.2:n.1196C>T, XR_949822.1:n.1196C>T, NM_152718.2:c.917C>T, XM_017017342.2:c.527C>T, XM_017017342.1:c.527C>T, XM_006718460.1:c.917C>T, XM_017017341.1:c.788C>T, XM_047426550.1:c.788C>T, XM_006718462.1:c.917C>T, XM_047426552.1:c.398C>T, XM_011544817.1:c.917C>T, XM_047426551.1:c.788C>T, XM_047426553.1:c.68C>T, XM_017017344.1:c.917C>T, NP_689931.2:p.Ala306Val, XP_016872831.1:p.Ala176Val, XP_006718523.1:p.Ala306Val, XP_016872830.1:p.Ala263Val, XP_047282506.1:p.Ala263Val, XP_006718525.1:p.Ala306Val, XP_047282508.1:p.Ala133Val, XP_011543119.1:p.Ala306Val, XP_047282507.1:p.Ala263Val, XP_047282509.1:p.Ala23Val, XP_016872833.1:p.Ala306Val

Select item 147468819916.

rs1474688199 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 11:61291495 (GRCh38)
11:61058967 (GRCh37)
Canonical SPDI:: NC_000011.10:61291494:C:G,NC_000011.10:61291494:C:T
Gene:: VWCE (Varview)
Functional Consequence:: intron_variant,synonymous_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0.00005/1 (ALFA)
HGVS:: NC_000011.10:g.61291495C>G, NC_000011.10:g.61291495C>T, NC_000011.9:g.61058967C>G, NC_000011.9:g.61058967C>T, XR_949822.3:n.471G>C, XR_949822.3:n.471G>A, XR_949822.2:n.471G>C, XR_949822.2:n.471G>A, XR_949822.1:n.471G>C, XR_949822.1:n.471G>A, NM_152718.2:c.192G>C, NM_152718.2:c.192G>A, XM_006718460.1:c.192G>C, XM_006718460.1:c.192G>A, XM_017017341.1:c.192G>C, XM_017017341.1:c.192G>A, XM_047426550.1:c.192G>C, XM_047426550.1:c.192G>A, XM_006718462.1:c.192G>C, XM_006718462.1:c.192G>A, XM_011544817.1:c.192G>C, XM_011544817.1:c.192G>A, XM_047426551.1:c.192G>C, XM_047426551.1:c.192G>A, XM_017017344.1:c.192G>C, XM_017017344.1:c.192G>A

Select item 147330423617.

rs1473304236 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 11:61282874 (GRCh38)
11:61050346 (GRCh37)
Canonical SPDI:: NC_000011.10:61282873:C:A
Gene:: VWCE (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_upstream_transcript_variant,coding_sequence_variant,upstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.61282874C>A, NC_000011.9:g.61050346C>A, XR_949822.3:n.852G>T, XR_949822.2:n.852G>T, XR_949822.1:n.852G>T, NM_152718.2:c.573G>T, XM_017017342.2:c.183G>T, XM_017017342.1:c.183G>T, XM_006718460.1:c.573G>T, XM_017017341.1:c.573G>T, XM_047426550.1:c.573G>T, XM_006718462.1:c.573G>T, XM_047426552.1:c.183G>T, XM_011544817.1:c.573G>T, XM_047426551.1:c.573G>T, XM_017017344.1:c.573G>T, NP_689931.2:p.Gln191His, XP_016872831.1:p.Gln61His, XP_006718523.1:p.Gln191His, XP_016872830.1:p.Gln191His, XP_047282506.1:p.Gln191His, XP_006718525.1:p.Gln191His, XP_047282508.1:p.Gln61His, XP_011543119.1:p.Gln191His, XP_047282507.1:p.Gln191His, XP_016872833.1:p.Gln191His

Select item 147272753618.

rs1472727536 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:61286408 (GRCh38)
11:61053880 (GRCh37)
Canonical SPDI:: NC_000011.10:61286407:G:A
Gene:: VWCE (Varview)
Functional Consequence:: genic_upstream_transcript_variant,synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.61286408G>A, NC_000011.9:g.61053880G>A, XR_949822.3:n.726C>T, XR_949822.2:n.726C>T, XR_949822.1:n.726C>T, NM_152718.2:c.447C>T, XM_017017342.2:c.57C>T, XM_017017342.1:c.57C>T, XM_006718460.1:c.447C>T, XM_017017341.1:c.447C>T, XM_047426550.1:c.447C>T, XM_006718462.1:c.447C>T, XM_047426552.1:c.57C>T, XM_011544817.1:c.447C>T, XM_047426551.1:c.447C>T, XM_017017344.1:c.447C>T

Select item 147063964819.

rs1470639648 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 11:61259294 (GRCh38)
11:61026766 (GRCh37)
Canonical SPDI:: NC_000011.10:61259293:T:G
Gene:: VWCE (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000224/1 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000223/1 (Estonian)
HGVS:: NC_000011.10:g.61259294T>G, NC_000011.9:g.61026766T>G, NM_152718.2:c.2249A>C, XM_017017342.2:c.1859A>C, XM_017017342.1:c.1859A>C, XM_006718460.1:c.2225A>C, XM_017017341.1:c.2120A>C, XM_047426550.1:c.2096A>C, XM_006718462.1:c.2069A>C, XM_047426552.1:c.1730A>C, XM_011544817.1:c.1955A>C, XM_047426551.1:c.1940A>C, XM_047426553.1:c.1400A>C, NP_689931.2:p.Glu750Ala, XP_016872831.1:p.Glu620Ala, XP_006718523.1:p.Glu742Ala, XP_016872830.1:p.Glu707Ala, XP_047282506.1:p.Glu699Ala, XP_006718525.1:p.Glu690Ala, XP_047282508.1:p.Glu577Ala, XP_011543119.1:p.Glu652Ala, XP_047282507.1:p.Glu647Ala, XP_047282509.1:p.Glu467Ala

Select item 147041468320.

rs1470414683 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:61280969 (GRCh38)
11:61048441 (GRCh37)
Canonical SPDI:: NC_000011.10:61280968:C:T
Gene:: VWCE (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000011/2 (GnomAD_exomes)
T=0.000071/1 (TOMMO)
HGVS:: NC_000011.10:g.61280969C>T, NC_000011.9:g.61048441C>T, XR_949822.3:n.1333G>A, XR_949822.2:n.1333G>A, XR_949822.1:n.1333G>A, NM_152718.2:c.1054G>A, XM_017017342.2:c.664G>A, XM_017017342.1:c.664G>A, XM_006718460.1:c.1054G>A, XM_017017341.1:c.925G>A, XM_047426550.1:c.925G>A, XM_006718462.1:c.1054G>A, XM_047426552.1:c.535G>A, XM_011544817.1:c.1054G>A, XM_047426551.1:c.925G>A, XM_047426553.1:c.205G>A, XM_017017344.1:c.1054G>A, NP_689931.2:p.Gly352Arg, XP_016872831.1:p.Gly222Arg, XP_006718523.1:p.Gly352Arg, XP_016872830.1:p.Gly309Arg, XP_047282506.1:p.Gly309Arg, XP_006718525.1:p.Gly352Arg, XP_047282508.1:p.Gly179Arg, XP_011543119.1:p.Gly352Arg, XP_047282507.1:p.Gly309Arg, XP_047282509.1:p.Gly69Arg, XP_016872833.1:p.Gly352Arg

dbSNP

Result Filters

Clinical Significance

Validation Status

Publication

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Links from Protein

Items: 1 to 20 of 960

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity