Linked Data
ClinVar Variation Id:
9861
ClinVar RCV Id:
RCV000010536
RCV000613283
RCV000824699
RCV000995934
RCV002512959
RCV003924823
RCV003982836
dbSNP Id:
rs1800053
ExAC:
X:66931295 C / A
gnomAD v2:
X-66931295-C-A
gnomAD v3:
X-67711453-C-A
gnomAD v4:
X-67711453-C-A
PubMed:
PMID:16804045
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.67711453C>A , CM000685.2:g.67711453C>A | GRCh38 |
| NC_000023.10:g.66931295C>A , CM000685.1:g.66931295C>A | GRCh37 |
| NC_000023.9:g.66848020C>A | NCBI36 |
| NG_009014.2:g.172422C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000396043.4:c.*285C>A | ENSP00000379358.4:n.*285C>A | |
| ENST00000374690.9:c.1937C>A MANE Select | ENSP00000363822.3:p.Ala646Asp | |
| ENST00000396043.3:c.564C>A | ENSP00000379358.3:n.564C>A | |
| ENST00000396044.8:c.1937C>A | ENSP00000379359.3:p.Ala646Asp | |
| ENST00000612452.5:c.1937C>A | ENSP00000484033.2:p.Ala646Asp | |
| ENST00000374690.7:c.1937C>A | ENSP00000363822.3:p.Ala646Asp | |
| ENST00000396043.2:c.341C>A | ENSP00000379358.2:p.Ala114Asp | |
| ENST00000396044.7:c.1937C>A | ENSP00000379359.3:p.Ala646Asp | |
| ENST00000612452.4:c.1367C>A | ENSP00000484033.1:p.Ala456Asp | |
| NM_000044.3:c.1937C>A | NP_000035.2:p.Ala646Asp | |
| NM_001011645.2:c.341C>A | NP_001011645.1:p.Ala114Asp | |
| NM_000044.4:c.1937C>A | NP_000035.2:p.Ala646Asp | |
| NM_001011645.3:c.341C>A | NP_001011645.1:p.Ala114Asp | |
| NM_000044.6:c.1937C>A MANE Select | NP_000035.2:p.Ala646Asp |