Linked Data
ClinVar Variation Id:
1467116
ClinVar RCV Id:
RCV001970323
dbSNP Id:
rs2147324074
gnomAD v4:
X-25013454-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.25013454G>T , CM000685.2:g.25013454G>T | GRCh38 |
| NC_000023.10:g.25031571G>T , CM000685.1:g.25031571G>T | GRCh37 |
| NC_000023.9:g.24941492G>T | NCBI36 |
| NG_008281.1:g.7495C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379044.5:c.541C>A MANE Select | ENSP00000368332.4:p.Pro181Thr | |
| ENST00000379044.4:c.541C>A | ENSP00000368332.4:p.Pro181Thr | |
| NM_139058.2:c.541C>A | NP_620689.1:p.Pro181Thr | |
| NM_139058.3:c.541C>A MANE Select | NP_620689.1:p.Pro181Thr |