Linked Data
ClinVar Variation Id:
157651
ClinVar RCV Id:
RCV000162276
dbSNP Id:
rs15172
gnomAD v2:
15-91509442-C-A
gnomAD v3:
15-90966212-C-A
gnomAD v4:
15-90966212-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.90966212C>A , CM000677.2:g.90966212C>A | GRCh38 |
| NC_000015.9:g.91509442C>A , CM000677.1:g.91509442C>A | GRCh37 |
| NC_000015.8:g.89310446C>A | NCBI36 |
| NG_050647.1:g.33440G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000394249.8:c.*919G>T MANE Select | ENSP00000377793.3:n.*919G>T | |
| ENST00000643536.1:c.*4544G>T | ENSP00000494429.1:n.*4544G>T | |
| ENST00000361188.9:c.*919G>T | ENSP00000354679.5:n.*919G>T | |
| ENST00000394249.7:c.*919G>T | ENSP00000377793.3:n.*919G>T | |
| ENST00000556972.6:c.566G>T | ENSP00000456737.1:n.566G>T | |
| NM_001267580.1:c.*962G>T | NP_001254509.1:n.*962G>T | |
| NM_003981.3:c.*919G>T | NP_003972.1:n.*919G>T | |
| NM_199413.2:c.*919G>T | NP_955445.1:n.*919G>T | |
| XM_005254987.1:c.*962G>T | XP_005255044.1:n.*962G>T | |
| XM_006720759.1:c.*1013G>T | XP_006720822.1:n.*1013G>T | |
| XM_006720760.1:c.*425G>T | XP_006720823.1:n.*425G>T | |
| XM_011522187.1:c.*367G>T | XP_011520489.1:n.*367G>T | |
| XM_011522188.1:c.*367G>T | XP_011520490.1:n.*367G>T | |
| XM_011522189.1:c.*367G>T | XP_011520491.1:n.*367G>T | |
| XM_011522190.1:c.*367G>T | XP_011520492.1:n.*367G>T | |
| XM_011522192.1:c.*367G>T | XP_011520494.1:n.*367G>T | |
| XM_005254987.3:c.*962G>T | XP_005255044.1:n.*962G>T | |
| XM_006720759.2:c.*1013G>T | XP_006720822.1:n.*1013G>T | |
| XM_006720760.2:c.*425G>T | XP_006720823.1:n.*425G>T | |
| XM_011522187.2:c.*367G>T | XP_011520489.1:n.*367G>T | |
| XM_011522188.3:c.*367G>T | XP_011520490.1:n.*367G>T | |
| XM_011522189.2:c.*367G>T | XP_011520491.1:n.*367G>T | |
| XM_011522191.3:c.*464G>T | XP_011520493.1:n.*464G>T | |
| XM_011522192.2:c.*367G>T | XP_011520494.1:n.*367G>T | |
| XM_017022712.2:c.*919G>T | XP_016878201.1:n.*919G>T | |
| XM_017022713.2:c.*919G>T | XP_016878202.1:n.*919G>T | |
| XM_017022715.2:c.*919G>T | XP_016878204.1:n.*919G>T | |
| XM_017022716.2:c.*919G>T | XP_016878205.1:n.*919G>T | |
| XM_017022717.1:c.*962G>T | XP_016878206.1:n.*962G>T | |
| NM_003981.4:c.*919G>T MANE Select | NP_003972.2:n.*919G>T | |
| NM_001267580.2:c.*962G>T | NP_001254509.2:n.*962G>T | |
| NM_199413.3:c.*919G>T | NP_955445.2:n.*919G>T |