Linked Data
ClinVar Variation Id:
9806
dbSNP Id:
rs137852564
gnomAD v4:
X-67722976-G-A
COSMIC:
COSM5946157
PubMed:
PMID:2594783
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.67722976G>A , CM000685.2:g.67722976G>A | GRCh38 |
| NC_000023.10:g.66942818G>A , CM000685.1:g.66942818G>A | GRCh37 |
| NC_000023.9:g.66859543G>A | NCBI36 |
| NG_009014.2:g.183945G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000396043.4:c.*947G>A | ENSP00000379358.4:n.*947G>A | |
| ENST00000374690.9:c.2599G>A MANE Select | ENSP00000363822.3:p.Val867Met | |
| ENST00000396043.3:c.1226G>A | ENSP00000379358.3:n.1226G>A | |
| ENST00000396044.8:c.2174-710G>A | ENSP00000379359.3:n.2174-710G>A | |
| ENST00000612452.5:c.2599G>A | ENSP00000484033.2:p.Val867Met | |
| ENST00000374690.7:c.2599G>A | ENSP00000363822.3:p.Val867Met | |
| ENST00000396043.2:c.1003G>A | ENSP00000379358.2:p.Val335Met | |
| ENST00000396044.7:c.2174-710G>A | ENSP00000379359.3:n.2174-710G>A | |
| ENST00000612452.4:c.2050G>A | ENSP00000484033.1:p.Val684Met | |
| NM_000044.3:c.2599G>A | NP_000035.2:p.Val867Met | |
| NM_001011645.2:c.1003G>A | NP_001011645.1:p.Val335Met | |
| NM_000044.4:c.2599G>A | NP_000035.2:p.Val867Met | |
| NM_001011645.3:c.1003G>A | NP_001011645.1:p.Val335Met | |
| NM_000044.6:c.2599G>A MANE Select | NP_000035.2:p.Val867Met |