Linked Data
dbSNP Id:
rs768840365
ExAC:
21:45706903 C / T
gnomAD v2:
21-45706903-C-T
gnomAD v4:
21-44287020-C-T
COSMIC:
COSM3551331
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.44287020C>T , CM000683.2:g.44287020C>T | GRCh38 |
| NC_000021.8:g.45706903C>T , CM000683.1:g.45706903C>T | GRCh37 |
| NC_000021.7:g.44531331C>T | NCBI36 |
| NG_009556.1:g.6141C>T , LRG_18:g.6141C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000291582.6:c.350C>T MANE Select | ENSP00000291582.5:p.Ala117Val | |
| ENST00000291582.5:c.350C>T | ENSP00000291582.5:p.Ala117Val | |
| ENST00000527919.5:n.511C>T | ||
| ENST00000530812.5:n.519C>T | ||
| NM_000383.3:c.350C>T | NP_000374.1:p.Ala117Val | |
| XM_011529551.1:c.350C>T | XP_011527853.1:p.Ala117Val | |
| NM_000383.4:c.350C>T MANE Select | NP_000374.1:p.Ala117Val |