SNP Links for Protein (Select 586798132) - SNP

Links from Protein

Items: 1 to 20 of 608

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Select item 14887452231.

rs1488745223 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 19:40667846 (GRCh38)
19:41173751 (GRCh37)
Canonical SPDI:: NC_000019.10:40667845:T:G
Gene:: NUMBL (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
HGVS:: NC_000019.10:g.40667846T>G, NC_000019.9:g.41173751T>G, NM_004756.5:c.1452A>C, NM_004756.4:c.1452A>C, NM_004756.3:c.1452A>C, NM_001289979.2:c.1329A>C, NM_001289979.1:c.1329A>C, NM_001289980.2:c.1329A>C, NM_001289980.1:c.1329A>C

Select item 14870866282.

rs1487086628 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 19:40669925 (GRCh38)
19:41175830 (GRCh37)
Canonical SPDI:: NC_000019.10:40669924:C:A
Gene:: NUMBL (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.001274/21 (TOMMO)
HGVS:: NC_000019.10:g.40669925C>A, NC_000019.9:g.41175830C>A, NM_004756.5:c.1132G>T, NM_004756.4:c.1132G>T, NM_004756.3:c.1132G>T, NM_001289979.2:c.1009G>T, NM_001289979.1:c.1009G>T, NM_001289980.2:c.1009G>T, NM_001289980.1:c.1009G>T, NP_004747.1:p.Ala378Ser, NP_001276908.1:p.Ala337Ser, NP_001276909.1:p.Ala337Ser

Select item 14865998823.

rs1486599882 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 19:40667848 (GRCh38)
19:41173753 (GRCh37)
Canonical SPDI:: NC_000019.10:40667847:G:A,NC_000019.10:40667847:G:C
Gene:: NUMBL (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.40667848G>A, NC_000019.10:g.40667848G>C, NC_000019.9:g.41173753G>A, NC_000019.9:g.41173753G>C, NM_004756.5:c.1450C>T, NM_004756.5:c.1450C>G, NM_004756.4:c.1450C>T, NM_004756.4:c.1450C>G, NM_004756.3:c.1450C>T, NM_004756.3:c.1450C>G, NM_001289979.2:c.1327C>T, NM_001289979.2:c.1327C>G, NM_001289979.1:c.1327C>T, NM_001289979.1:c.1327C>G, NM_001289980.2:c.1327C>T, NM_001289980.2:c.1327C>G, NM_001289980.1:c.1327C>T, NM_001289980.1:c.1327C>G, NP_004747.1:p.Pro484Ser, NP_004747.1:p.Pro484Ala, NP_001276908.1:p.Pro443Ser, NP_001276908.1:p.Pro443Ala, NP_001276909.1:p.Pro443Ser, NP_001276909.1:p.Pro443Ala

Select item 14853001564.

rs1485300156 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:40673429 (GRCh38)
19:41179334 (GRCh37)
Canonical SPDI:: NC_000019.10:40673428:C:T
Gene:: NUMBL (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000021/3 (GnomAD)
T=0.000035/1 (TOMMO)
HGVS:: NC_000019.10:g.40673429C>T, NC_000019.9:g.41179334C>T, NM_004756.5:c.951G>A, NM_004756.4:c.951G>A, NM_004756.3:c.951G>A, NM_001289979.2:c.828G>A, NM_001289979.1:c.828G>A, NM_001289980.2:c.828G>A, NM_001289980.1:c.828G>A

Select item 14837938795.

rs1483793879 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:40667701 (GRCh38)
19:41173606 (GRCh37)
Canonical SPDI:: NC_000019.10:40667700:G:A
Gene:: NUMBL (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.40667701G>A, NC_000019.9:g.41173606G>A, NM_004756.5:c.1597C>T, NM_004756.4:c.1597C>T, NM_004756.3:c.1597C>T, NM_001289979.2:c.1474C>T, NM_001289979.1:c.1474C>T, NM_001289980.2:c.1474C>T, NM_001289980.1:c.1474C>T

Select item 14831289216.

rs1483128921 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:40668075 (GRCh38)
19:41173980 (GRCh37)
Canonical SPDI:: NC_000019.10:40668074:C:T
Gene:: NUMBL (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: T=0.00004/1 (TOMMO)
HGVS:: NC_000019.10:g.40668075C>T, NC_000019.9:g.41173980C>T, NM_004756.5:c.1223G>A, NM_004756.4:c.1223G>A, NM_004756.3:c.1223G>A, NM_001289979.2:c.1100G>A, NM_001289979.1:c.1100G>A, NM_001289980.2:c.1100G>A, NM_001289980.1:c.1100G>A, NP_004747.1:p.Arg408Gln, NP_001276908.1:p.Arg367Gln, NP_001276909.1:p.Arg367Gln

Select item 14827831397.

rs1482783139 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 19:40667764 (GRCh38)
19:41173669 (GRCh37)
Canonical SPDI:: NC_000019.10:40667763:G:T
Gene:: NUMBL (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000019.10:g.40667764G>T, NC_000019.9:g.41173669G>T, NM_004756.5:c.1534C>A, NM_004756.4:c.1534C>A, NM_004756.3:c.1534C>A, NM_001289979.2:c.1411C>A, NM_001289979.1:c.1411C>A, NM_001289980.2:c.1411C>A, NM_001289980.1:c.1411C>A, NP_004747.1:p.Pro512Thr, NP_001276908.1:p.Pro471Thr, NP_001276909.1:p.Pro471Thr

Select item 14819788448.

rs1481978844 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:40673516 (GRCh38)
19:41179421 (GRCh37)
Canonical SPDI:: NC_000019.10:40673515:G:A
Gene:: NUMBL (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000028/1 (ALFA)
A=0.000006/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
A=0.000019/5 (TOPMED)
HGVS:: NC_000019.10:g.40673516G>A, NC_000019.9:g.41179421G>A, NM_004756.5:c.864C>T, NM_004756.4:c.864C>T, NM_004756.3:c.864C>T, NM_001289979.2:c.741C>T, NM_001289979.1:c.741C>T, NM_001289980.2:c.741C>T, NM_001289980.1:c.741C>T

Select item 14807447999.

rs1480744799 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:40677256 (GRCh38)
19:41183161 (GRCh37)
Canonical SPDI:: NC_000019.10:40677255:G:A
Gene:: NUMBL (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.40677256G>A, NC_000019.9:g.41183161G>A, NM_004756.5:c.706C>T, NM_004756.4:c.706C>T, NM_004756.3:c.706C>T, NM_001289979.2:c.583C>T, NM_001289979.1:c.583C>T, NM_001289980.2:c.583C>T, NM_001289980.1:c.583C>T, NP_004747.1:p.Arg236Ter, NP_001276908.1:p.Arg195Ter, NP_001276909.1:p.Arg195Ter

Select item 147789006410.

rs1477890064 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:40668083 (GRCh38)
19:41173988 (GRCh37)
Canonical SPDI:: NC_000019.10:40668082:C:T
Gene:: NUMBL (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
HGVS:: NC_000019.10:g.40668083C>T, NC_000019.9:g.41173988C>T, NM_004756.5:c.1215G>A, NM_004756.4:c.1215G>A, NM_004756.3:c.1215G>A, NM_001289979.2:c.1092G>A, NM_001289979.1:c.1092G>A, NM_001289980.2:c.1092G>A, NM_001289980.1:c.1092G>A

Select item 147647120611.

rs1476471206 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 19:40677300 (GRCh38)
19:41183205 (GRCh37)
Canonical SPDI:: NC_000019.10:40677299:C:A,NC_000019.10:40677299:C:T
Gene:: NUMBL (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000031/1 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.40677300C>A, NC_000019.10:g.40677300C>T, NC_000019.9:g.41183205C>A, NC_000019.9:g.41183205C>T, NM_004756.5:c.662G>T, NM_004756.5:c.662G>A, NM_004756.4:c.662G>T, NM_004756.4:c.662G>A, NM_004756.3:c.662G>T, NM_004756.3:c.662G>A, NM_001289979.2:c.539G>T, NM_001289979.2:c.539G>A, NM_001289979.1:c.539G>T, NM_001289979.1:c.539G>A, NM_001289980.2:c.539G>T, NM_001289980.2:c.539G>A, NM_001289980.1:c.539G>T, NM_001289980.1:c.539G>A, NP_004747.1:p.Arg221Leu, NP_004747.1:p.Arg221His, NP_001276908.1:p.Arg180Leu, NP_001276908.1:p.Arg180His, NP_001276909.1:p.Arg180Leu, NP_001276909.1:p.Arg180His

Select item 147593596812.

rs1475935968 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 19:40667943 (GRCh38)
19:41173848 (GRCh37)
Canonical SPDI:: NC_000019.10:40667942:G:T
Gene:: NUMBL (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000019.10:g.40667943G>T, NC_000019.9:g.41173848G>T, NM_004756.5:c.1355C>A, NM_004756.4:c.1355C>A, NM_004756.3:c.1355C>A, NM_001289979.2:c.1232C>A, NM_001289979.1:c.1232C>A, NM_001289980.2:c.1232C>A, NM_001289980.1:c.1232C>A, NP_004747.1:p.Pro452Gln, NP_001276908.1:p.Pro411Gln, NP_001276909.1:p.Pro411Gln

Select item 147485572613.

rs1474855726 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:40684429 (GRCh38)
19:41190334 (GRCh37)
Canonical SPDI:: NC_000019.10:40684428:G:A
Gene:: NUMBL (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
HGVS:: NC_000019.10:g.40684429G>A, NC_000019.9:g.41190334G>A, NM_004756.5:c.237C>T, NM_004756.4:c.237C>T, NM_004756.3:c.237C>T, NM_001289979.2:c.114C>T, NM_001289979.1:c.114C>T, NM_001289980.2:c.114C>T, NM_001289980.1:c.114C>T

Select item 147461303414.

rs1474613034 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 19:40667503 (GRCh38)
19:41173408 (GRCh37)
Canonical SPDI:: NC_000019.10:40667502:C:G
Gene:: NUMBL (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.40667503C>G, NC_000019.9:g.41173408C>G, NM_004756.5:c.1795G>C, NM_004756.4:c.1795G>C, NM_004756.3:c.1795G>C, NM_001289979.2:c.1672G>C, NM_001289979.1:c.1672G>C, NM_001289980.2:c.1672G>C, NM_001289980.1:c.1672G>C, NP_004747.1:p.Gly599Arg, NP_001276908.1:p.Gly558Arg, NP_001276909.1:p.Gly558Arg

Select item 147316599715.

rs1473165997 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 19:40668013 (GRCh38)
19:41173918 (GRCh37)
Canonical SPDI:: NC_000019.10:40668012:G:A,NC_000019.10:40668012:G:T
Gene:: NUMBL (Varview)
Functional Consequence:: stop_gained,missense_variant,coding_sequence_variant
HGVS:: NC_000019.10:g.40668013G>A, NC_000019.10:g.40668013G>T, NC_000019.9:g.41173918G>A, NC_000019.9:g.41173918G>T, NM_004756.5:c.1285C>T, NM_004756.5:c.1285C>A, NM_004756.4:c.1285C>T, NM_004756.4:c.1285C>A, NM_004756.3:c.1285C>T, NM_004756.3:c.1285C>A, NM_001289979.2:c.1162C>T, NM_001289979.2:c.1162C>A, NM_001289979.1:c.1162C>T, NM_001289979.1:c.1162C>A, NM_001289980.2:c.1162C>T, NM_001289980.2:c.1162C>A, NM_001289980.1:c.1162C>T, NM_001289980.1:c.1162C>A, NP_004747.1:p.Gln429Ter, NP_004747.1:p.Gln429Lys, NP_001276908.1:p.Gln388Ter, NP_001276908.1:p.Gln388Lys, NP_001276909.1:p.Gln388Ter, NP_001276909.1:p.Gln388Lys

Select item 147153272616.

rs1471532726 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:40669934 (GRCh38)
19:41175839 (GRCh37)
Canonical SPDI:: NC_000019.10:40669933:C:T
Gene:: NUMBL (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000019.10:g.40669934C>T, NC_000019.9:g.41175839C>T, NM_004756.5:c.1123G>A, NM_004756.4:c.1123G>A, NM_004756.3:c.1123G>A, NM_001289979.2:c.1000G>A, NM_001289979.1:c.1000G>A, NM_001289980.2:c.1000G>A, NM_001289980.1:c.1000G>A, NP_004747.1:p.Gly375Arg, NP_001276908.1:p.Gly334Arg, NP_001276909.1:p.Gly334Arg

Select item 147081121317.

rs1470811213 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 19:40673605 (GRCh38)
19:41179510 (GRCh37)
Canonical SPDI:: NC_000019.10:40673604:G:C
Gene:: NUMBL (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000023/3 (GnomAD_exomes)
HGVS:: NC_000019.10:g.40673605G>C, NC_000019.9:g.41179510G>C, NM_004756.5:c.775C>G, NM_004756.4:c.775C>G, NM_004756.3:c.775C>G, NM_001289979.2:c.652C>G, NM_001289979.1:c.652C>G, NM_001289980.2:c.652C>G, NM_001289980.1:c.652C>G, NP_004747.1:p.Pro259Ala, NP_001276908.1:p.Pro218Ala, NP_001276909.1:p.Pro218Ala

Select item 146873088318.

rs1468730883 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:40673417 (GRCh38)
19:41179322 (GRCh37)
Canonical SPDI:: NC_000019.10:40673416:C:T
Gene:: NUMBL (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.40673417C>T, NC_000019.9:g.41179322C>T, NM_004756.5:c.963G>A, NM_004756.4:c.963G>A, NM_004756.3:c.963G>A, NM_001289979.2:c.840G>A, NM_001289979.1:c.840G>A, NM_001289980.2:c.840G>A, NM_001289980.1:c.840G>A

Select item 146859717819.

rs1468597178 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 19:40681034 (GRCh38)
19:41186939 (GRCh37)
Canonical SPDI:: NC_000019.10:40681033:G:T
Gene:: NUMBL (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.40681034G>T, NC_000019.9:g.41186939G>T, NM_004756.5:c.423C>A, NM_004756.4:c.423C>A, NM_004756.3:c.423C>A, NM_001289979.2:c.300C>A, NM_001289979.1:c.300C>A, NM_001289980.2:c.300C>A, NM_001289980.1:c.300C>A

Select item 146429300120.

rs1464293001 [Homo sapiens]

Variant type:: DELINS
Alleles:: CTGCTGTTGCTG>- [Show Flanks]
Chromosome:: 19:40667987 (GRCh38)
19:41173892 (GRCh37)
Canonical SPDI:: NC_000019.10:40667981:TGCTGCTGCTGTTGCTG:TGCTG
Gene:: NUMBL (Varview)
Functional Consequence:: inframe_deletion,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGCTG=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000017/1 (GnomAD)
HGVS:: NC_000019.10:g.40667987_40667998del, NC_000019.9:g.41173892_41173903del, NM_004756.5:c.1305_1316del, NM_004756.4:c.1305_1316del, NM_004756.3:c.1305_1316del, NM_001289979.2:c.1182_1193del, NM_001289979.1:c.1182_1193del, NM_001289980.2:c.1182_1193del, NM_001289980.1:c.1182_1193del, NP_004747.1:p.Gln443_Gln446del, NP_001276908.1:p.Gln402_Gln405del, NP_001276909.1:p.Gln402_Gln405del

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