Linked Data
ClinVar Variation Id:
2930254
ClinVar RCV Id:
RCV003787612
dbSNP Id:
rs1293869187
gnomAD v3:
X-25013662-C-G
gnomAD v4:
X-25013662-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.25013662C>G , CM000685.2:g.25013662C>G | GRCh38 |
| NC_000023.10:g.25031779C>G , CM000685.1:g.25031779C>G | GRCh37 |
| NC_000023.9:g.24941700C>G | NCBI36 |
| NG_008281.1:g.7287G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379044.5:c.333G>C MANE Select | ENSP00000368332.4:p.Ala111= | |
| ENST00000379044.4:c.333G>C | ENSP00000368332.4:p.Ala111= | |
| NM_139058.2:c.333G>C | NP_620689.1:p.Ala111= | |
| NM_139058.3:c.333G>C MANE Select | NP_620689.1:p.Ala111= |