Linked Data
ClinVar Variation Id:
1022114
ClinVar RCV Id:
RCV001321985
dbSNP Id:
rs2048708779
gnomAD v4:
X-25013051-G-A
COSMIC:
COSM6381228
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.25013051G>A , CM000685.2:g.25013051G>A | GRCh38 |
| NC_000023.10:g.25031168G>A , CM000685.1:g.25031168G>A | GRCh37 |
| NC_000023.9:g.24941089G>A | NCBI36 |
| NG_008281.1:g.7898C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379044.5:c.944C>T MANE Select | ENSP00000368332.4:p.Ala315Val | |
| ENST00000379044.4:c.944C>T | ENSP00000368332.4:p.Ala315Val | |
| NM_139058.2:c.944C>T | NP_620689.1:p.Ala315Val | |
| NM_139058.3:c.944C>T MANE Select | NP_620689.1:p.Ala315Val |