Linked Data
ClinVar Variation Id:
2942937
ClinVar RCV Id:
RCV003808103
dbSNP Id:
rs752099144
ExAC:
X:25025233 G / A
gnomAD v2:
X-25025233-G-A
gnomAD v4:
X-25007116-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.25007116G>A , CM000685.2:g.25007116G>A | GRCh38 |
| NC_000023.10:g.25025233G>A , CM000685.1:g.25025233G>A | GRCh37 |
| NC_000023.9:g.24935154G>A | NCBI36 |
| NG_008281.1:g.13833C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379044.5:c.1443C>T MANE Select | ENSP00000368332.4:p.Phe481= | |
| ENST00000637993.1:c.56C>T | ||
| ENST00000379044.4:c.1443C>T | ENSP00000368332.4:p.Phe481= | |
| NM_139058.2:c.1443C>T | NP_620689.1:p.Phe481= | |
| NM_139058.3:c.1443C>T MANE Select | NP_620689.1:p.Phe481= |