Linked Data
dbSNP Id:
rs117275594
gnomAD v2:
15-91509406-C-A
gnomAD v3:
15-90966176-C-A
gnomAD v4:
15-90966176-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.90966176C>A , CM000677.2:g.90966176C>A | GRCh38 |
| NC_000015.9:g.91509406C>A , CM000677.1:g.91509406C>A | GRCh37 |
| NC_000015.8:g.89310410C>A | NCBI36 |
| NG_050647.1:g.33476G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000394249.8:c.*955G>T MANE Select | ENSP00000377793.3:n.*955G>T | |
| ENST00000361188.9:c.*955G>T | ENSP00000354679.5:n.*955G>T | |
| ENST00000394249.7:c.*955G>T | ENSP00000377793.3:n.*955G>T | |
| ENST00000556972.6:c.602G>T | ENSP00000456737.1:n.602G>T | |
| NM_001267580.1:c.*998G>T | NP_001254509.1:n.*998G>T | |
| NM_003981.3:c.*955G>T | NP_003972.1:n.*955G>T | |
| NM_199413.2:c.*955G>T | NP_955445.1:n.*955G>T | |
| XM_005254987.1:c.*998G>T | XP_005255044.1:n.*998G>T | |
| XM_006720759.1:c.*1049G>T | XP_006720822.1:n.*1049G>T | |
| XM_006720760.1:c.*461G>T | XP_006720823.1:n.*461G>T | |
| XM_011522187.1:c.*403G>T | XP_011520489.1:n.*403G>T | |
| XM_011522188.1:c.*403G>T | XP_011520490.1:n.*403G>T | |
| XM_011522189.1:c.*403G>T | XP_011520491.1:n.*403G>T | |
| XM_011522190.1:c.*403G>T | XP_011520492.1:n.*403G>T | |
| XM_011522192.1:c.*403G>T | XP_011520494.1:n.*403G>T | |
| XM_005254987.3:c.*998G>T | XP_005255044.1:n.*998G>T | |
| XM_006720759.2:c.*1049G>T | XP_006720822.1:n.*1049G>T | |
| XM_006720760.2:c.*461G>T | XP_006720823.1:n.*461G>T | |
| XM_011522187.2:c.*403G>T | XP_011520489.1:n.*403G>T | |
| XM_011522188.3:c.*403G>T | XP_011520490.1:n.*403G>T | |
| XM_011522189.2:c.*403G>T | XP_011520491.1:n.*403G>T | |
| XM_011522191.3:c.*500G>T | XP_011520493.1:n.*500G>T | |
| XM_011522192.2:c.*403G>T | XP_011520494.1:n.*403G>T | |
| XM_017022712.2:c.*955G>T | XP_016878201.1:n.*955G>T | |
| XM_017022713.2:c.*955G>T | XP_016878202.1:n.*955G>T | |
| XM_017022715.2:c.*955G>T | XP_016878204.1:n.*955G>T | |
| XM_017022716.2:c.*955G>T | XP_016878205.1:n.*955G>T | |
| XM_017022717.1:c.*998G>T | XP_016878206.1:n.*998G>T | |
| NM_003981.4:c.*955G>T MANE Select | NP_003972.2:n.*955G>T | |
| NM_001267580.2:c.*998G>T | NP_001254509.2:n.*998G>T | |
| NM_199413.3:c.*955G>T | NP_955445.2:n.*955G>T |