Linked Data
ClinVar Variation Id:
2505602
ClinVar RCV Id:
RCV003235834
dbSNP Id:
rs1343612979
gnomAD v2:
X-25031485-G-A
gnomAD v4:
X-25013368-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.25013368G>A , CM000685.2:g.25013368G>A | GRCh38 |
| NC_000023.10:g.25031485G>A , CM000685.1:g.25031485G>A | GRCh37 |
| NC_000023.9:g.24941406G>A | NCBI36 |
| NG_008281.1:g.7581C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000379044.5:c.627C>T MANE Select | ENSP00000368332.4:p.Gly209= | |
| ENST00000379044.4:c.627C>T | ENSP00000368332.4:p.Gly209= | |
| NM_139058.2:c.627C>T | NP_620689.1:p.Gly209= | |
| NM_139058.3:c.627C>T MANE Select | NP_620689.1:p.Gly209= |