Linked Data
ClinVar Variation Id:
2929923
ClinVar RCV Id:
RCV003787281
dbSNP Id:
rs372682890
ExAC:
X:66765968 G / A
gnomAD v2:
X-66765968-G-A
gnomAD v3:
X-67546126-G-A
gnomAD v4:
X-67546126-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.67546126G>A , CM000685.2:g.67546126G>A | GRCh38 |
| NC_000023.10:g.66765968G>A , CM000685.1:g.66765968G>A | GRCh37 |
| NC_000023.9:g.66682693G>A | NCBI36 |
| NG_009014.2:g.7095G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000396043.4:c.980G>A | ENSP00000379358.4:p.Cys327Tyr | |
| ENST00000374690.9:c.980G>A MANE Select | ENSP00000363822.3:p.Cys327Tyr | |
| ENST00000396044.8:c.980G>A | ENSP00000379359.3:p.Cys327Tyr | |
| ENST00000612452.5:c.980G>A | ENSP00000484033.2:p.Cys327Tyr | |
| ENST00000374690.7:c.980G>A | ENSP00000363822.3:p.Cys327Tyr | |
| ENST00000396044.7:c.980G>A | ENSP00000379359.3:p.Cys327Tyr | |
| ENST00000504326.5:c.980G>A | ENSP00000421155.1:p.Cys327Tyr | |
| ENST00000513847.5:n.1307G>A | ||
| ENST00000514029.5:c.980G>A | ENSP00000425199.1:p.Cys327Tyr | |
| ENST00000612010.4:c.980G>A | ENSP00000482407.1:p.Cys327Tyr | |
| ENST00000612452.4:c.410G>A | ENSP00000484033.1:p.Cys137Tyr | |
| ENST00000613054.2:c.980G>A | ENSP00000479013.1:p.Cys327Tyr | |
| NM_000044.3:c.980G>A | NP_000035.2:p.Cys327Tyr | |
| NM_000044.4:c.980G>A | NP_000035.2:p.Cys327Tyr | |
| NM_001011645.3:c.-804G>A | NP_001011645.1:n.-804G>A | |
| NM_001348061.1:c.980G>A | NP_001334990.1:p.Cys327Tyr | |
| NM_001348063.1:c.980G>A | NP_001334992.1:p.Cys327Tyr | |
| NM_001348064.1:c.980G>A | NP_001334993.1:p.Cys327Tyr | |
| NM_000044.6:c.980G>A MANE Select | NP_000035.2:p.Cys327Tyr |