Linked Data
ClinVar Variation Id:
2950489
ClinVar RCV Id:
RCV003809799
dbSNP Id:
rs759401811
ExAC:
X:66765258 G / T
gnomAD v2:
X-66765258-G-T
gnomAD v4:
X-67545416-G-T
COSMIC:
COSM5985104
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.67545416G>T , CM000685.2:g.67545416G>T | GRCh38 |
| NC_000023.10:g.66765258G>T , CM000685.1:g.66765258G>T | GRCh37 |
| NC_000023.9:g.66681983G>T | NCBI36 |
| NG_009014.2:g.6385G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000396043.4:c.270G>T | ENSP00000379358.4:p.Gln90His | |
| ENST00000374690.9:c.270G>T MANE Select | ENSP00000363822.3:p.Gln90His | |
| ENST00000396044.8:c.270G>T | ENSP00000379359.3:p.Gln90His | |
| ENST00000612452.5:c.270G>T | ENSP00000484033.2:p.Gln90His | |
| ENST00000374690.7:c.270G>T | ENSP00000363822.3:p.Gln90His | |
| ENST00000396044.7:c.270G>T | ENSP00000379359.3:p.Gln90His | |
| ENST00000504326.5:c.270G>T | ENSP00000421155.1:p.Gln90His | |
| ENST00000513847.5:n.597G>T | ||
| ENST00000514029.5:c.270G>T | ENSP00000425199.1:p.Gln90His | |
| ENST00000612010.4:c.270G>T | ENSP00000482407.1:p.Gln90His | |
| ENST00000612452.4:c.-301G>T | ENSP00000484033.1:n.-301G>T | |
| ENST00000613054.2:c.270G>T | ENSP00000479013.1:p.Gln90His | |
| NM_000044.3:c.270G>T | NP_000035.2:p.Gln90His | |
| NM_000044.4:c.270G>T | NP_000035.2:p.Gln90His | |
| NM_001011645.3:c.-1514G>T | NP_001011645.1:n.-1514G>T | |
| NM_001348061.1:c.270G>T | NP_001334990.1:p.Gln90His | |
| NM_001348063.1:c.270G>T | NP_001334992.1:p.Gln90His | |
| NM_001348064.1:c.270G>T | NP_001334993.1:p.Gln90His | |
| NM_000044.6:c.270G>T MANE Select | NP_000035.2:p.Gln90His |