Linked Data
ClinVar Variation Id:
2445373
ClinVar RCV Id:
RCV003154783
dbSNP Id:
rs758962274
gnomAD v3:
X-67717511-C-A
gnomAD v4:
X-67717511-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.67717511C>A , CM000685.2:g.67717511C>A | GRCh38 |
| NC_000023.10:g.66937353C>A , CM000685.1:g.66937353C>A | GRCh37 |
| NC_000023.9:g.66854078C>A | NCBI36 |
| NG_009014.2:g.178480C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000396043.4:c.*555C>A | ENSP00000379358.4:n.*555C>A | |
| ENST00000374690.9:c.2207C>A MANE Select | ENSP00000363822.3:p.Ala736Asp | |
| ENST00000396043.3:c.834C>A | ENSP00000379358.3:n.834C>A | |
| ENST00000396044.8:c.2173+5822C>A | ENSP00000379359.3:n.2173+5822C>A | |
| ENST00000612452.5:c.2207C>A | ENSP00000484033.2:p.Ala736Asp | |
| ENST00000374690.7:c.2207C>A | ENSP00000363822.3:p.Ala736Asp | |
| ENST00000396043.2:c.611C>A | ENSP00000379358.2:p.Ala204Asp | |
| ENST00000396044.7:c.2173+5822C>A | ENSP00000379359.3:n.2173+5822C>A | |
| ENST00000612452.4:c.1637C>A | ENSP00000484033.1:p.Ala546Asp | |
| NM_000044.3:c.2207C>A | NP_000035.2:p.Ala736Asp | |
| NM_001011645.2:c.611C>A | NP_001011645.1:p.Ala204Asp | |
| NM_000044.4:c.2207C>A | NP_000035.2:p.Ala736Asp | |
| NM_001011645.3:c.611C>A | NP_001011645.1:p.Ala204Asp | |
| NM_000044.6:c.2207C>A MANE Select | NP_000035.2:p.Ala736Asp |