Linked Data
dbSNP Id:
rs745546656
ExAC:
8:87751912 G / T
gnomAD v2:
8-87751912-G-T
gnomAD v3:
8-86739684-G-T
gnomAD v4:
8-86739684-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.86739684G>T , CM000670.2:g.86739684G>T | GRCh38 |
| NC_000008.10:g.87751912G>T , CM000670.1:g.87751912G>T | GRCh37 |
| NC_000008.9:g.87821028G>T | NCBI36 |
| NG_016980.1:g.8992C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320005.6:c.182C>A MANE Select | ENSP00000316605.5:p.Thr61Lys | |
| ENST00000681746.1:c.182C>A | ENSP00000505959.1:p.Thr61Lys | |
| ENST00000320005.5:c.182C>A | ENSP00000316605.5:p.Thr61Lys | |
| ENST00000519777.1:n.164C>A | ||
| NM_019098.4:c.182C>A | NP_061971.3:p.Thr61Lys | |
| NM_019098.5:c.182C>A MANE Select | NP_061971.3:p.Thr61Lys |