Linked Data
ClinVar Variation Id:
365109
ClinVar RCV Id:
RCV000315016
dbSNP Id:
rs886063479
gnomAD v2:
9-130617029-G-T
gnomAD v3:
9-127854750-G-T
gnomAD v4:
9-127854750-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.127854750G>T , CM000671.2:g.127854750G>T | GRCh38 |
| NC_000009.11:g.130617029G>T , CM000671.1:g.130617029G>T | GRCh37 |
| NC_000009.10:g.129656850G>T | NCBI36 |
| NG_009551.1:g.5019C>A , LRG_589:g.5019C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000373203.8:c.-395C>A | ENSP00000362299.4:n.-395C>A | |
| NM_000118.3:c.-395C>A , LRG_589t1:c.-395C>A | NP_000109.1:n.-395C>A | |
| NM_001114753.2:c.-395C>A , LRG_589t2:c.-395C>A | NP_001108225.1:n.-395C>A |