Linked Data
ClinVar Variation Id:
2368656
ClinVar RCV Id:
RCV002997519
dbSNP Id:
rs1457990330
gnomAD v2:
1-17313302-T-C
gnomAD v4:
1-16986807-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.16986807T>C , CM000663.2:g.16986807T>C | GRCh38 |
| NC_000001.10:g.17313302T>C , CM000663.1:g.17313302T>C | GRCh37 |
| NC_000001.9:g.17185889T>C | NCBI36 |
| NG_009054.1:g.30122A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000326735.13:c.3233A>G MANE Select | ENSP00000327214.8:p.Asn1078Ser | |
| ENST00000326735.12:c.3233A>G | ENSP00000327214.8:p.Asn1078Ser | |
| ENST00000341676.9:c.3101A>G | ENSP00000341115.5:p.Asn1034Ser | |
| ENST00000452699.5:c.3218A>G | ENSP00000413307.1:p.Asn1073Ser | |
| ENST00000466561.1:n.1107A>G | ||
| ENST00000502418.1:c.821A>G | ENSP00000423065.1:p.Asn274Ser | |
| NM_001141973.2:c.3218A>G | NP_001135445.1:p.Asn1073Ser | |
| NM_001141974.2:c.3101A>G | NP_001135446.1:p.Asn1034Ser | |
| NM_022089.3:c.3233A>G | NP_071372.1:p.Asn1078Ser | |
| XM_005245809.1:c.3233A>G | XP_005245866.1:p.Asn1078Ser | |
| XM_005245810.1:c.3230A>G | XP_005245867.1:p.Asn1077Ser | |
| XM_005245811.1:c.3218A>G | XP_005245868.1:p.Asn1073Ser | |
| XM_005245812.1:c.3206A>G | XP_005245869.1:p.Asn1069Ser | |
| XM_005245813.1:c.3173A>G | XP_005245870.1:p.Asn1058Ser | |
| XM_005245815.1:c.3116A>G | XP_005245872.1:p.Asn1039Ser | |
| XM_006710512.1:c.3215A>G | XP_006710575.1:p.Asn1072Ser | |
| XM_006710513.1:c.3191A>G | XP_006710576.1:p.Asn1064Ser | |
| XM_011541128.1:c.3218A>G | XP_011539430.1:p.Asn1073Ser | |
| XM_011541129.1:c.3026A>G | XP_011539431.1:p.Asn1009Ser | |
| XM_017000844.1:c.3218A>G | XP_016856333.1:p.Asn1073Ser | |
| XM_017000845.1:c.3215A>G | XP_016856334.1:p.Asn1072Ser | |
| XM_017000846.1:c.3191A>G | XP_016856335.1:p.Asn1064Ser | |
| XM_017000847.1:c.3188A>G | XP_016856336.1:p.Asn1063Ser | |
| XM_017000848.1:c.3116A>G | XP_016856337.1:p.Asn1039Ser | |
| XM_017000849.1:c.3101A>G | XP_016856338.1:p.Asn1034Ser | |
| XM_017000850.1:c.3026A>G | XP_016856339.1:p.Asn1009Ser | |
| NM_022089.4:c.3233A>G MANE Select | NP_071372.1:p.Asn1078Ser | |
| NM_001141973.3:c.3218A>G | NP_001135445.1:p.Asn1073Ser | |
| NM_001141974.3:c.3101A>G | NP_001135446.1:p.Asn1034Ser |