Linked Data
ClinVar Variation Id:
465015
dbSNP Id:
rs782275601
ExAC:
X:153580296 C / T
gnomAD v2:
X-153580296-C-T
gnomAD v3:
X-154351928-C-T
gnomAD v4:
X-154351928-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154351928C>T , CM000685.2:g.154351928C>T | GRCh38 |
| NC_000023.10:g.153580296C>T , CM000685.1:g.153580296C>T | GRCh37 |
| NC_000023.9:g.153233490C>T | NCBI36 |
| NG_011506.1:g.27711G>A | |
| NG_011506.2:g.27711G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360319.9:c.6839G>A | ENSP00000353467.4:p.Arg2280His | |
| ENST00000369850.10:c.6863G>A MANE Select | ENSP00000358866.3:p.Arg2288His | |
| ENST00000369856.8:c.6782G>A | ENSP00000358872.4:p.Arg2261His | |
| ENST00000422373.6:c.3644G>A | ENSP00000416926.2:p.Arg1215His | |
| ENST00000610817.5:c.6920G>A | ENSP00000480593.2:n.6920G>A | |
| ENST00000673639.2:c.280-3238G>A | ||
| ENST00000676696.1:c.7142G>A | ENSP00000503392.1:n.7142G>A | |
| ENST00000678304.1:n.2042G>A | ||
| ENST00000344736.8:c.6743G>A | ENSP00000358863.3:p.Arg2248His | |
| ENST00000360319.8:c.6839G>A | ENSP00000353467.4:p.Arg2280His | |
| ENST00000369850.7:c.6863G>A | ENSP00000358866.3:p.Arg2288His | |
| ENST00000369856.7:c.6782G>A | ENSP00000358872.4:p.Arg2261His | |
| ENST00000420627.5:c.6819G>A | ENSP00000408921.1:n.6819G>A | |
| ENST00000422373.5:c.6839G>A | ENSP00000416926.1:p.Arg2280His | |
| ENST00000444578.1:c.683G>A | ENSP00000397824.1:p.Arg228His | |
| ENST00000474358.5:n.496G>A | ||
| ENST00000490936.5:n.2852G>A | ||
| ENST00000498411.1:n.67+889G>A | ||
| ENST00000610817.4:c.5867G>A | ENSP00000480593.1:p.Arg1956His | |
| NM_001110556.1:c.6863G>A | NP_001104026.1:p.Arg2288His | |
| NM_001456.3:c.6839G>A | NP_001447.2:p.Arg2280His | |
| XM_011531127.1:c.6767G>A | XP_011529429.1:p.Arg2256His | |
| XM_011531128.1:c.6743G>A | XP_011529430.1:p.Arg2248His | |
| XM_011531129.1:c.6689G>A | XP_011529431.1:p.Arg2230His | |
| XM_011531130.1:c.6665G>A | XP_011529432.1:p.Arg2222His | |
| XM_011531131.1:c.6662G>A | XP_011529433.1:p.Arg2221His | |
| NM_001110556.2:c.6863G>A MANE Select | NP_001104026.1:p.Arg2288His | |
| NM_001456.4:c.6839G>A | NP_001447.2:p.Arg2280His |