Linked Data
dbSNP Id:
rs769574364
ExAC:
3:14190325 C / T
gnomAD v2:
3-14190325-C-T
gnomAD v4:
3-14148825-C-T
COSMIC:
COSM6331457
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.14148825C>T , CM000665.2:g.14148825C>T | GRCh38 |
| NC_000003.11:g.14190325C>T , CM000665.1:g.14190325C>T | GRCh37 |
| NC_000003.10:g.14165326C>T | NCBI36 |
| NG_011763.1:g.34848G>A , LRG_472:g.34848G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000285021.12:c.2239G>A MANE Select | ENSP00000285021.8:p.Val747Met | |
| ENST00000285021.11:c.2239G>A | ENSP00000285021.7:p.Val747Met | |
| ENST00000427795.2:n.104G>A | ||
| ENST00000476581.6:c.*1692G>A | ENSP00000424548.1:n.*1692G>A | |
| NM_004628.4:c.2239G>A , LRG_472t1:c.2239G>A | NP_004619.3:p.Val747Met | |
| NR_027299.1:n.2219G>A | ||
| XM_011534092.1:c.2239G>A | XP_011532394.1:p.Val747Met | |
| NM_001354726.1:c.1660G>A | NP_001341655.1:p.Val554Met | |
| NM_001354727.1:c.2233G>A | NP_001341656.1:p.Val745Met | |
| NM_001354729.1:c.2221G>A | NP_001341658.1:p.Val741Met | |
| NM_001354730.1:c.1993G>A | NP_001341659.1:p.Val665Met | |
| NR_148950.1:n.2182G>A | ||
| NR_148951.1:n.2058G>A | ||
| XR_001740256.2:n.2272G>A | ||
| XR_002959580.1:n.2272G>A | ||
| XR_002959581.1:n.3889G>A | ||
| NM_001354727.2:c.2233G>A | NP_001341656.1:p.Val745Met | |
| NM_004628.5:c.2239G>A MANE Select | NP_004619.3:p.Val747Met | |
| NR_148950.2:n.2111G>A | ||
| NR_148951.2:n.1987G>A | ||
| NM_001354726.2:c.1660G>A | NP_001341655.1:p.Val554Met | |
| NM_001354729.2:c.2221G>A | NP_001341658.1:p.Val741Met | |
| NM_001354730.2:c.1993G>A | NP_001341659.1:p.Val665Met |