Linked Data
ClinVar Variation Id:
190874
dbSNP Id:
rs554201948
ExAC:
19:35530162 C / T
gnomAD v2:
19-35530162-C-T
gnomAD v3:
19-35039258-C-T
gnomAD v4:
19-35039258-C-T
COSMIC:
COSM3822716
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.35039258C>T , CM000681.2:g.35039258C>T | GRCh38 |
| NC_000019.9:g.35530162C>T , CM000681.1:g.35530162C>T | GRCh37 |
| NC_000019.8:g.40222002C>T | NCBI36 |
| NG_013359.1:g.13571C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262631.11:c.590C>T MANE Select | ENSP00000262631.3:p.Ala197Val | |
| ENST00000596348.2:c.491C>T | ENSP00000492247.1:p.Ala164Val | |
| ENST00000602150.2:n.2360C>T | ||
| ENST00000638536.1:c.590C>T | ENSP00000492022.1:p.Ala197Val | |
| ENST00000639260.1:n.1403C>T | ||
| ENST00000675741.1:c.617C>T | ENSP00000502395.1:p.Ala206Val | |
| ENST00000676410.1:c.*308C>T | ENSP00000502717.1:n.*308C>T | |
| ENST00000262631.9:c.590C>T | ENSP00000262631.3:p.Ala197Val | |
| ENST00000595652.5:c.377C>T | ENSP00000468848.1:p.Ala126Val | |
| ENST00000602150.1:n.2360C>T | ||
| NM_001037.4:c.590C>T | NP_001028.1:p.Ala197Val | |
| XM_005259144.1:c.491C>T | XP_005259201.1:p.Ala164Val | |
| NM_001321605.1:c.491C>T | NP_001308534.1:p.Ala164Val | |
| NM_001037.5:c.590C>T MANE Select | NP_001028.1:p.Ala197Val | |
| NM_001321605.2:c.491C>T | NP_001308534.1:p.Ala164Val |