Linked Data
dbSNP Id:
rs11465413
gnomAD v2:
19-7805951-A-T
gnomAD v3:
19-7741065-A-T
gnomAD v4:
19-7741065-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7741065A>T , CM000681.2:g.7741065A>T | GRCh38 |
| NC_000019.9:g.7805951A>T , CM000681.1:g.7805951A>T | GRCh37 |
| NC_000019.8:g.7711951A>T | NCBI36 |
| NG_012167.1:g.11514T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000315599.12:c.*1974T>A MANE Select | ENSP00000315477.6:n.*1974T>A | |
| ENST00000676543.1:c.70+4453T>A | ENSP00000503143.1:n.70+4453T>A | |
| ENST00000678003.1:c.476+502T>A | ENSP00000504497.1:n.476+502T>A | |
| ENST00000678227.1:n.579+502T>A | ||
| ENST00000678780.1:c.1971+502T>A | ENSP00000503751.1:n.1971+502T>A | |
| ENST00000315599.11:c.*1974T>A | ENSP00000315477.6:n.*1974T>A | |
| NM_001144893.1:c.*1974T>A | NP_001138365.1:n.*1974T>A | |
| NM_001144894.1:c.*1974T>A | NP_001138366.1:n.*1974T>A | |
| NM_001144895.1:c.*1974T>A | NP_001138367.1:n.*1974T>A | |
| NM_001144896.1:c.*1974T>A | NP_001138368.1:n.*1974T>A | |
| NM_001144897.1:c.*1974T>A | NP_001138369.1:n.*1974T>A | |
| NM_001144899.1:c.*1974T>A | NP_001138371.1:n.*1974T>A | |
| NM_021155.3:c.*1974T>A | NP_066978.1:n.*1974T>A | |
| NR_026692.1:n.3356T>A | ||
| XM_005272472.3:c.*1974T>A | XP_005272529.1:n.*1974T>A | |
| XM_005272472.4:c.*1974T>A | XP_005272529.1:n.*1974T>A | |
| NM_021155.4:c.*1974T>A MANE Select | NP_066978.1:n.*1974T>A | |
| NM_001144893.2:c.*1974T>A | NP_001138365.1:n.*1974T>A | |
| NM_001144894.2:c.*1974T>A | NP_001138366.1:n.*1974T>A | |
| NM_001144895.2:c.*1974T>A | NP_001138367.1:n.*1974T>A | |
| NM_001144896.2:c.*1974T>A | NP_001138368.1:n.*1974T>A | |
| NM_001144897.2:c.*1974T>A | NP_001138369.1:n.*1974T>A | |
| NM_001144899.2:c.*1974T>A | NP_001138371.1:n.*1974T>A | |
| NR_026692.2:n.3312T>A |