Linked Data
ClinVar Variation Id:
1038654
ClinVar RCV Id:
RCV001341990
dbSNP Id:
rs1449728469
gnomAD v4:
X-25013649-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.25013649T>C , CM000685.2:g.25013649T>C | GRCh38 |
| NC_000023.10:g.25031766T>C , CM000685.1:g.25031766T>C | GRCh37 |
| NC_000023.9:g.24941687T>C | NCBI36 |
| NG_008281.1:g.7300A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379044.5:c.346A>G MANE Select | ENSP00000368332.4:p.Thr116Ala | |
| ENST00000379044.4:c.346A>G | ENSP00000368332.4:p.Thr116Ala | |
| NM_139058.2:c.346A>G | NP_620689.1:p.Thr116Ala | |
| NM_139058.3:c.346A>G MANE Select | NP_620689.1:p.Thr116Ala |