Linked Data
dbSNP Id:
rs780735829
ExAC:
X:119760743 G / A
gnomAD v2:
X-119760743-G-A
gnomAD v3:
X-120626888-G-A
gnomAD v4:
X-120626888-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.120626888G>A , CM000685.2:g.120626888G>A | GRCh38 |
| NC_000023.10:g.119760743G>A , CM000685.1:g.119760743G>A | GRCh37 |
| NC_000023.9:g.119644771G>A | NCBI36 |
| NG_016219.1:g.8263C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000304661.6:c.279C>T MANE Select | ENSP00000304364.5:p.His93= | |
| ENST00000304661.5:c.279C>T | ENSP00000304364.5:p.His93= | |
| ENST00000371313.2:c.279C>T | ENSP00000360363.2:p.His93= | |
| NM_001011551.2:c.279C>T | NP_001011551.1:p.His93= | |
| NM_152692.4:c.279C>T | NP_689905.1:p.His93= | |
| NM_001011551.3:c.279C>T MANE Select | NP_001011551.1:p.His93= | |
| NM_152692.5:c.279C>T | NP_689905.1:p.His93= |