Linked Data
ClinVar Variation Id:
10177
dbSNP Id:
rs137852394
gnomAD v4:
X-154992996-C-T
PubMed:
PMID:1301932
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154992996C>T , CM000685.2:g.154992996C>T | GRCh38 |
| NC_000023.10:g.154221271C>T , CM000685.1:g.154221271C>T | GRCh37 |
| NC_000023.9:g.153874465C>T | NCBI36 |
| NG_011403.1:g.34728G>A | |
| NG_011403.2:g.34728G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360256.9:c.541G>A MANE Select | ENSP00000353393.4:p.Val181Met | |
| ENST00000647125.1:c.*327G>A | ENSP00000496062.1:n.*327G>A | |
| ENST00000360256.8:c.541G>A | ENSP00000353393.4:p.Val181Met | |
| ENST00000423959.5:c.436G>A | ENSP00000409446.1:p.Val146Met | |
| NM_000132.3:c.541G>A | NP_000123.1:p.Val181Met | |
| XM_011531126.1:c.436G>A | XP_011529428.1:p.Val146Met | |
| NM_000132.4:c.541G>A MANE Select | NP_000123.1:p.Val181Met |