Linked Data
dbSNP Id:
rs369329828
ExAC:
X:50653971 T / A
gnomAD v2:
X-50653971-T-A
gnomAD v3:
X-50910971-T-A
gnomAD v4:
X-50910971-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.50910971T>A , CM000685.2:g.50910971T>A | GRCh38 |
| NC_000023.10:g.50653971T>A , CM000685.1:g.50653971T>A | GRCh37 |
| NC_000023.9:g.50670711T>A | NCBI36 |
| NG_012894.1:g.5188T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252677.4:c.188T>A MANE Select | ENSP00000252677.3:p.Leu63Gln | |
| ENST00000252677.3:c.188T>A | ENSP00000252677.3:p.Leu63Gln | |
| NM_005448.2:c.188T>A MANE Select | NP_005439.2:p.Leu63Gln |