Linked Data
dbSNP Id:
rs3769124
gnomAD v2:
2-239349362-G-A
gnomAD v3:
2-238440721-G-A
gnomAD v4:
2-238440721-G-A
Allelic Epigenome:
Alellic Epigenome (raw data)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.238440721G>A , CM000664.2:g.238440721G>A | GRCh38 |
| NC_000002.11:g.239349362G>A , CM000664.1:g.239349362G>A | GRCh37 |
| NC_000002.10:g.239014101G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000264607.9:c.495-3621G>A MANE Select | ENSP00000264607.4:n.495-3621G>A | |
| ENST00000264607.8:c.495-3621G>A | ENSP00000264607.4:n.495-3621G>A | |
| ENST00000409297.1:c.192-3621G>A | ENSP00000387025.1:n.192-3621G>A | |
| ENST00000438264.5:c.*167-3621G>A | ENSP00000411773.1:n.*167-3621G>A | |
| ENST00000463352.5:n.536-3621G>A | ||
| ENST00000468122.1:n.94-3621G>A | ||
| ENST00000491653.1:n.686-3621G>A | ||
| NM_001040445.1:c.495-3621G>A | NP_001035535.1:n.495-3621G>A | |
| XM_005246080.1:c.192-3621G>A | XP_005246137.1:n.192-3621G>A | |
| XR_241236.1:n.825-3621G>A | ||
| XR_241237.1:n.825-3621G>A | ||
| NM_001040445.2:c.495-3621G>A | NP_001035535.1:n.495-3621G>A | |
| NM_001330196.1:c.192-3621G>A | NP_001317125.1:n.192-3621G>A | |
| NM_001040445.3:c.495-3621G>A MANE Select | NP_001035535.1:n.495-3621G>A | |
| NM_001330196.2:c.192-3621G>A | NP_001317125.1:n.192-3621G>A |