Linked Data
ClinVar Variation Id:
373299
dbSNP Id:
rs187082481
ExAC:
15:31197956 A / C
gnomAD v2:
15-31197956-A-C
gnomAD v3:
15-30905753-A-C
gnomAD v4:
15-30905753-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.30905753A>C , CM000677.2:g.30905753A>C | GRCh38 |
| NC_000015.9:g.31197956A>C , CM000677.1:g.31197956A>C | GRCh37 |
| NC_000015.8:g.28985248A>C | NCBI36 |
| NG_032946.1:g.6902A>C | |
| NG_032946.2:g.6902A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000362065.9:c.1090A>C MANE Select | ENSP00000354497.4:p.Asn364His | |
| ENST00000561607.6:c.1090A>C | ENSP00000454223.1:p.Asn364His | |
| ENST00000562892.2:c.-57+1163A>C | ENSP00000457680.2:n.-57+1163A>C | |
| ENST00000568145.6:n.110+1163A>C | ||
| ENST00000602886.2:n.1267A>C | ||
| ENST00000654013.1:n.1366A>C | ||
| ENST00000654056.1:c.-57+1163A>C | ENSP00000499726.1:n.-57+1163A>C | |
| ENST00000655421.1:n.1361A>C | ||
| ENST00000656109.1:n.179+1163A>C | ||
| ENST00000656307.1:n.1342A>C | ||
| ENST00000656435.1:c.1090A>C | ENSP00000499534.1:p.Asn364His | |
| ENST00000657391.1:c.1090A>C | ENSP00000499703.1:p.Asn364His | |
| ENST00000658773.1:c.1090A>C | ENSP00000499742.1:p.Asn364His | |
| ENST00000661974.1:c.584A>C | ||
| ENST00000662114.1:n.1346A>C | ||
| ENST00000664070.1:c.1090A>C | ENSP00000499478.1:p.Asn364His | |
| ENST00000664837.1:c.-57+1163A>C | ENSP00000499780.1:n.-57+1163A>C | |
| ENST00000665705.1:n.1329A>C | ||
| ENST00000665894.1:n.1350A>C | ||
| ENST00000666143.1:c.-201A>C | ENSP00000499576.1:n.-201A>C | |
| ENST00000666852.1:n.1342A>C | ||
| ENST00000667837.1:n.965+400A>C | ||
| ENST00000670074.1:c.690+400A>C | ENSP00000499252.1:n.690+400A>C | |
| ENST00000670849.1:c.1090A>C | ENSP00000499638.1:p.Asn364His | |
| ENST00000362065.8:c.1090A>C | ENSP00000354497.4:p.Asn364His | |
| ENST00000561594.5:c.1090A>C | ENSP00000455983.1:p.Asn364His | |
| ENST00000561607.5:c.1090A>C | ENSP00000454223.1:p.Asn364His | |
| ENST00000562892.1:c.52+1163A>C | ENSP00000457680.1:n.52+1163A>C | |
| ENST00000565280.5:c.1090A>C | ENSP00000455573.1:p.Asn364His | |
| ENST00000565466.5:c.1090A>C | ENSP00000454544.1:p.Asn364His | |
| NM_001146094.1:c.1090A>C | NP_001139566.1:p.Asn364His | |
| NM_001146095.1:c.1090A>C | NP_001139567.1:p.Asn364His | |
| NM_001146096.1:c.1090A>C | NP_001139568.1:p.Asn364His | |
| NM_014967.4:c.1090A>C | NP_055782.3:p.Asn364His | |
| XM_005254232.3:c.1090A>C | XP_005254289.1:p.Asn364His | |
| XM_005254234.3:c.1090A>C | XP_005254291.1:p.Asn364His | |
| XM_005254235.3:c.1090A>C | XP_005254292.1:p.Asn364His | |
| XM_005254236.2:c.1090A>C | XP_005254293.1:p.Asn364His | |
| XM_011521370.1:c.52+1163A>C | XP_011519672.1:n.52+1163A>C | |
| XM_011521371.1:c.-230A>C | XP_011519673.1:n.-230A>C | |
| XM_011521372.1:c.1090A>C | XP_011519674.1:p.Asn364His | |
| XM_005254232.4:c.1090A>C | XP_005254289.1:p.Asn364His | |
| XM_005254234.5:c.1090A>C | XP_005254291.1:p.Asn364His | |
| XM_011521370.2:c.52+1163A>C | XP_011519672.1:n.52+1163A>C | |
| XM_011521372.2:c.1090A>C | XP_011519674.1:p.Asn364His | |
| XM_017022012.2:c.-380A>C | XP_016877501.1:n.-380A>C | |
| XM_017022013.1:c.-380A>C | XP_016877502.1:n.-380A>C | |
| XM_024449874.1:c.-230A>C | XP_024305642.1:n.-230A>C | |
| XR_001751149.1:n.1389A>C | ||
| XR_001751151.1:n.1385A>C | ||
| NM_014967.5:c.1090A>C MANE Select | NP_055782.3:p.Asn364His | |
| NM_001146094.2:c.1090A>C | NP_001139566.1:p.Asn364His | |
| NM_001146096.2:c.1090A>C | NP_001139568.1:p.Asn364His |