Linked Data
dbSNP Id:
rs766596662
ExAC:
X:30322722 G / A
gnomAD v2:
X-30322722-G-A
gnomAD v4:
X-30304605-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.30304605G>A , CM000685.2:g.30304605G>A | GRCh38 |
| NC_000023.10:g.30322722G>A , CM000685.1:g.30322722G>A | GRCh37 |
| NC_000023.9:g.30232643G>A | NCBI36 |
| NG_009814.1:g.9774C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378970.5:c.1387C>T MANE Select | ENSP00000368253.4:p.Leu463= | |
| ENST00000378970.4:c.1387C>T | ENSP00000368253.4:p.Leu463= | |
| NM_000475.4:c.1387C>T | NP_000466.2:p.Leu463= | |
| NM_000475.5:c.1387C>T MANE Select | NP_000466.2:p.Leu463= |