Linked Data
ClinVar Variation Id:
521244
ClinVar RCV Id:
RCV000623516
dbSNP Id:
rs782099600
ExAC:
X:48336902 A / G
gnomAD v2:
X-48336902-A-G
gnomAD v3:
X-48478514-A-G
gnomAD v4:
X-48478514-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.48478514A>G , CM000685.2:g.48478514A>G | GRCh38 |
| NC_000023.10:g.48336902A>G , CM000685.1:g.48336902A>G | GRCh37 |
| NC_000023.9:g.48221846A>G | NCBI36 |
| NG_008879.1:g.7354A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000348411.3:c.187A>G MANE Select | ENSP00000326948.2:p.Ile63Val | |
| ENST00000019019.6:c.187A>G | ENSP00000019019.2:p.Ile63Val | |
| ENST00000348411.2:c.187A>G | ENSP00000326948.2:p.Ile63Val | |
| ENST00000396894.8:c.-76-524A>G | ENSP00000380103.4:n.-76-524A>G | |
| ENST00000473235.5:n.179+2118A>G | ||
| ENST00000485486.1:n.419A>G | ||
| ENST00000487353.5:n.691A>G | ||
| ENST00000492562.5:n.244+2118A>G | ||
| NM_001282157.1:c.-76-524A>G | NP_001269086.1:n.-76-524A>G | |
| NM_012280.3:c.187A>G | NP_036412.1:p.Ile63Val | |
| NM_177439.2:c.187A>G | NP_803188.1:p.Ile63Val | |
| XM_005272595.1:c.187A>G | XP_005272652.1:p.Ile63Val | |
| XM_011543893.1:c.187A>G | XP_011542195.1:p.Ile63Val | |
| XM_011543894.1:c.187A>G | XP_011542196.1:p.Ile63Val | |
| XM_011543895.1:c.187A>G | XP_011542197.1:p.Ile63Val | |
| XR_949015.1:n.605A>G | ||
| XR_949016.1:n.605A>G | ||
| XM_005272595.2:c.187A>G | XP_005272652.1:p.Ile63Val | |
| XM_024452359.1:c.187A>G | XP_024308127.1:p.Ile63Val | |
| XR_002958767.1:n.501A>G | ||
| XR_002958768.1:n.601A>G | ||
| XR_002958769.1:n.501A>G | ||
| XR_002958770.1:n.601A>G | ||
| XR_949015.2:n.501A>G | ||
| XR_949016.2:n.501A>G | ||
| NM_012280.4:c.187A>G MANE Select | NP_036412.1:p.Ile63Val | |
| NM_177439.3:c.187A>G | NP_803188.1:p.Ile63Val |