Linked Data
dbSNP Id:
rs777897403
ExAC:
12:116420403 G / T
gnomAD v2:
12-116420403-G-T
gnomAD v4:
12-115982598-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.115982598G>T , CM000674.2:g.115982598G>T | GRCh38 |
| NC_000012.11:g.116420403G>T , CM000674.1:g.116420403G>T | GRCh37 |
| NC_000012.10:g.114904786G>T | NCBI36 |
| NG_023366.1:g.299589C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000281928.9:c.4961C>A MANE Select | ENSP00000281928.3:p.Thr1654Lys | |
| ENST00000549786.2:c.4389C>A | ||
| ENST00000648379.1:n.3329C>A | ||
| ENST00000648737.1:n.4725C>A | ||
| ENST00000648825.1:n.1701C>A | ||
| ENST00000648916.1:n.2972C>A | ||
| ENST00000649146.1:n.2204C>A | ||
| ENST00000649607.1:c.3145C>A | ||
| ENST00000649775.1:c.1453-3C>A | ||
| ENST00000650226.1:c.4961C>A | ENSP00000496981.1:p.Thr1654Lys | |
| ENST00000281928.7:c.4961C>A | ENSP00000281928.3:p.Thr1654Lys | |
| ENST00000549786.1:c.325C>A | ||
| NM_015335.4:c.4961C>A | NP_056150.1:p.Thr1654Lys | |
| XM_011538080.1:c.4961C>A | XP_011536382.1:p.Thr1654Lys | |
| XM_011538081.1:c.4958C>A | XP_011536383.1:p.Thr1653Lys | |
| XM_011538082.1:c.4931C>A | XP_011536384.1:p.Thr1644Lys | |
| XM_011538080.2:c.4961C>A | XP_011536382.1:p.Thr1654Lys | |
| XM_011538081.2:c.4958C>A | XP_011536383.1:p.Thr1653Lys | |
| XM_011538082.2:c.4931C>A | XP_011536384.1:p.Thr1644Lys | |
| XM_017019090.1:c.4958C>A | XP_016874579.1:p.Thr1653Lys | |
| NM_015335.5:c.4961C>A MANE Select | NP_056150.1:p.Thr1654Lys |