Linked Data
ClinVar Variation Id:
2688609
ClinVar RCV Id:
RCV003490480
dbSNP Id:
rs2048712403
gnomAD v4:
X-25013549-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.25013549G>A , CM000685.2:g.25013549G>A | GRCh38 |
| NC_000023.10:g.25031666G>A , CM000685.1:g.25031666G>A | GRCh37 |
| NC_000023.9:g.24941587G>A | NCBI36 |
| NG_008281.1:g.7400C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000379044.5:c.446C>T MANE Select | ENSP00000368332.4:p.Ala149Val | |
| ENST00000379044.4:c.446C>T | ENSP00000368332.4:p.Ala149Val | |
| NM_139058.2:c.446C>T | NP_620689.1:p.Ala149Val | |
| NM_139058.3:c.446C>T MANE Select | NP_620689.1:p.Ala149Val |