Linked Data
ClinVar Variation Id:
9813
dbSNP Id:
rs137852569
gnomAD v3:
X-67686030-G-A
gnomAD v4:
X-67686030-G-A
PubMed:
PMID:1598912
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.67686030G>A , CM000685.2:g.67686030G>A | GRCh38 |
| NC_000023.10:g.66905872G>A , CM000685.1:g.66905872G>A | GRCh37 |
| NC_000023.9:g.66822597G>A | NCBI36 |
| NG_009014.2:g.146999G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000396043.4:c.*137G>A | ENSP00000379358.4:n.*137G>A | |
| ENST00000374690.9:c.1789G>A MANE Select | ENSP00000363822.3:p.Ala597Thr | |
| ENST00000396043.3:c.416G>A | ENSP00000379358.3:n.416G>A | |
| ENST00000396044.8:c.1789G>A | ENSP00000379359.3:p.Ala597Thr | |
| ENST00000612452.5:c.1789G>A | ENSP00000484033.2:p.Ala597Thr | |
| ENST00000374690.7:c.1789G>A | ENSP00000363822.3:p.Ala597Thr | |
| ENST00000396043.2:c.193G>A | ENSP00000379358.2:p.Ala65Thr | |
| ENST00000396044.7:c.1789G>A | ENSP00000379359.3:p.Ala597Thr | |
| ENST00000504326.5:c.1789G>A | ENSP00000421155.1:p.Ala597Thr | |
| ENST00000513847.5:n.2116G>A | ||
| ENST00000514029.5:c.*270G>A | ENSP00000425199.1:n.*270G>A | |
| ENST00000612010.4:c.*141G>A | ENSP00000482407.1:n.*141G>A | |
| ENST00000612452.4:c.1219G>A | ENSP00000484033.1:p.Ala407Thr | |
| ENST00000613054.2:c.1706G>A | ENSP00000479013.1:p.Arg569His | |
| NM_000044.3:c.1789G>A | NP_000035.2:p.Ala597Thr | |
| NM_001011645.2:c.193G>A | NP_001011645.1:p.Ala65Thr | |
| NM_000044.4:c.1789G>A | NP_000035.2:p.Ala597Thr | |
| NM_001011645.3:c.193G>A | NP_001011645.1:p.Ala65Thr | |
| NM_001348061.1:c.1789G>A | NP_001334990.1:p.Ala597Thr | |
| NM_001348063.1:c.1789G>A | NP_001334992.1:p.Ala597Thr | |
| NM_001348064.1:c.1706G>A | NP_001334993.1:p.Arg569His | |
| NM_000044.6:c.1789G>A MANE Select | NP_000035.2:p.Ala597Thr |