Linked Data
ClinVar Variation Id:
1765839
ClinVar RCV Id:
RCV002378668
dbSNP Id:
rs760990483
ExAC:
X:25031202 C / T
gnomAD v2:
X-25031202-C-T
gnomAD v4:
X-25013085-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.25013085C>T , CM000685.2:g.25013085C>T | GRCh38 |
| NC_000023.10:g.25031202C>T , CM000685.1:g.25031202C>T | GRCh37 |
| NC_000023.9:g.24941123C>T | NCBI36 |
| NG_008281.1:g.7864G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379044.5:c.910G>A MANE Select | ENSP00000368332.4:p.Gly304Ser | |
| ENST00000379044.4:c.910G>A | ENSP00000368332.4:p.Gly304Ser | |
| NM_139058.2:c.910G>A | NP_620689.1:p.Gly304Ser | |
| NM_139058.3:c.910G>A MANE Select | NP_620689.1:p.Gly304Ser |