Linked Data
ClinVar Variation Id:
283824
dbSNP Id:
rs368787128
ExAC:
8:87591429 G / A
gnomAD v2:
8-87591429-G-A
gnomAD v3:
8-86579201-G-A
gnomAD v4:
8-86579201-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.86579201G>A , CM000670.2:g.86579201G>A | GRCh38 |
| NC_000008.10:g.87591429G>A , CM000670.1:g.87591429G>A | GRCh37 |
| NC_000008.9:g.87660545G>A | NCBI36 |
| NG_016980.1:g.169475C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000320005.6:c.1833C>T MANE Select | ENSP00000316605.5:p.His611= | |
| ENST00000681546.1:n.1653C>T | ||
| ENST00000681746.1:c.*244C>T | ENSP00000505959.1:n.*244C>T | |
| ENST00000320005.5:c.1833C>T | ENSP00000316605.5:p.His611= | |
| ENST00000517327.5:c.6C>T | ENSP00000428329.1:p.His2= | |
| NM_019098.4:c.1833C>T | NP_061971.3:p.His611= | |
| XM_011517138.1:c.1419C>T | XP_011515440.1:p.His473= | |
| XM_011517138.2:c.1419C>T | XP_011515440.1:p.His473= | |
| NM_019098.5:c.1833C>T MANE Select | NP_061971.3:p.His611= |