Linked Data
dbSNP Id:
rs6800541
gnomAD v2:
3-38774832-C-T
gnomAD v3:
3-38733341-C-T
gnomAD v4:
3-38733341-C-T
Allelic Epigenome:
Alellic Epigenome (raw data)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.38733341C>T , CM000665.2:g.38733341C>T | GRCh38 |
| NC_000003.11:g.38774832C>T , CM000665.1:g.38774832C>T | GRCh37 |
| NC_000003.10:g.38749836C>T | NCBI36 |
| NG_031891.2:g.65670G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000449082.3:c.2281-4440G>A MANE Select | ENSP00000390600.2:n.2281-4440G>A | |
| ENST00000643924.1:c.2281-4440G>A | ENSP00000495595.1:n.2281-4440G>A | |
| ENST00000655275.1:c.2308-4440G>A | ENSP00000499510.1:n.2308-4440G>A | |
| ENST00000449082.2:c.2281-4440G>A | ENSP00000390600.2:n.2281-4440G>A | |
| NM_001293306.2:c.2281-4440G>A | NP_001280235.2:n.2281-4440G>A | |
| NM_001293307.2:c.1987-4440G>A | NP_001280236.2:n.1987-4440G>A | |
| NM_006514.3:c.2281-4440G>A | NP_006505.3:n.2281-4440G>A | |
| XM_005265371.2:c.2290-4440G>A | XP_005265428.1:n.2290-4440G>A | |
| XM_011533993.1:c.2290-4440G>A | XP_011532295.1:n.2290-4440G>A | |
| XM_011533994.1:c.1996-4440G>A | XP_011532296.1:n.1996-4440G>A | |
| XM_005265371.3:c.2290-4440G>A | XP_005265428.1:n.2290-4440G>A | |
| XM_011533993.2:c.2290-4440G>A | XP_011532295.1:n.2290-4440G>A | |
| XM_011533994.2:c.1996-4440G>A | XP_011532296.1:n.1996-4440G>A | |
| NM_006514.4:c.2281-4440G>A MANE Select | NP_006505.4:n.2281-4440G>A |