Linked Data
dbSNP Id:
rs771962815
ExAC:
X:30322825 T / A
gnomAD v2:
X-30322825-T-A
gnomAD v3:
X-30304708-T-A
gnomAD v4:
X-30304708-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.30304708T>A , CM000685.2:g.30304708T>A | GRCh38 |
| NC_000023.10:g.30322825T>A , CM000685.1:g.30322825T>A | GRCh37 |
| NC_000023.9:g.30232746T>A | NCBI36 |
| NG_009814.1:g.9671A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378970.5:c.1284A>T MANE Select | ENSP00000368253.4:p.Glu428Asp | |
| ENST00000378970.4:c.1284A>T | ENSP00000368253.4:p.Glu428Asp | |
| NM_000475.4:c.1284A>T | NP_000466.2:p.Glu428Asp | |
| NM_000475.5:c.1284A>T MANE Select | NP_000466.2:p.Glu428Asp |