Linked Data
ClinVar Variation Id:
365077
ClinVar RCV Id:
RCV000355571
dbSNP Id:
rs190129922
gnomAD v2:
9-130577470-G-A
gnomAD v3:
9-127815191-G-A
gnomAD v4:
9-127815191-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.127815191G>A , CM000671.2:g.127815191G>A | GRCh38 |
| NC_000009.11:g.130577470G>A , CM000671.1:g.130577470G>A | GRCh37 |
| NC_000009.10:g.129617291G>A | NCBI36 |
| NG_009551.1:g.44578C>T , LRG_589:g.44578C>T | |
| NG_023245.1:g.17317G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000480266.6:c.*491C>T | ENSP00000479015.1:n.*491C>T | |
| ENST00000373203.9:c.*491C>T MANE Select | ENSP00000362299.4:n.*491C>T | |
| ENST00000344849.4:c.*726C>T | ENSP00000341917.3:n.*726C>T | |
| ENST00000373203.8:c.*491C>T | ENSP00000362299.4:n.*491C>T | |
| ENST00000480266.5:c.*491C>T | ENSP00000479015.1:n.*491C>T | |
| NM_000118.3:c.*726C>T , LRG_589t1:c.*726C>T | NP_000109.1:n.*726C>T | |
| NM_001114753.2:c.*491C>T , LRG_589t2:c.*491C>T | NP_001108225.1:n.*491C>T | |
| NM_001278138.1:c.*491C>T | NP_001265067.1:n.*491C>T | |
| NM_001114753.3:c.*491C>T MANE Select | NP_001108225.1:n.*491C>T | |
| NM_001278138.2:c.*491C>T | NP_001265067.1:n.*491C>T |