Linked Data
ClinVar Variation Id:
68228
dbSNP Id:
rs179363886
gnomAD v3:
21-44286068-C-T
gnomAD v4:
21-44286068-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.44286068C>T , CM000683.2:g.44286068C>T | GRCh38 |
| NC_000021.8:g.45705951C>T , CM000683.1:g.45705951C>T | GRCh37 |
| NC_000021.7:g.44530379C>T | NCBI36 |
| NG_009556.1:g.5189C>T , LRG_18:g.5189C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000291582.6:c.62C>T MANE Select | ENSP00000291582.5:p.Ala21Val | |
| ENST00000291582.5:c.62C>T | ENSP00000291582.5:p.Ala21Val | |
| ENST00000527919.5:n.223C>T | ||
| ENST00000530812.5:n.231C>T | ||
| NM_000383.3:c.62C>T | NP_000374.1:p.Ala21Val | |
| XM_011529551.1:c.62C>T | XP_011527853.1:p.Ala21Val | |
| NM_000383.4:c.62C>T MANE Select | NP_000374.1:p.Ala21Val |