Linked Data
ClinVar Variation Id:
167077
dbSNP Id:
rs727503930
ExAC:
X:153578560 C / T
gnomAD v2:
X-153578560-C-T
gnomAD v3:
X-154350192-C-T
gnomAD v4:
X-154350192-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154350192C>T , CM000685.2:g.154350192C>T | GRCh38 |
| NC_000023.10:g.153578560C>T , CM000685.1:g.153578560C>T | GRCh37 |
| NC_000023.9:g.153231754C>T | NCBI36 |
| NG_011506.1:g.29447G>A | |
| NG_011506.2:g.29447G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360319.9:c.7148G>A | ENSP00000353467.4:p.Arg2383His | |
| ENST00000369850.10:c.7172G>A MANE Select | ENSP00000358866.3:p.Arg2391His | |
| ENST00000369856.8:c.7091G>A | ENSP00000358872.4:p.Arg2364His | |
| ENST00000422373.6:c.3953G>A | ENSP00000416926.2:p.Arg1318His | |
| ENST00000610817.5:c.7229G>A | ENSP00000480593.2:n.7229G>A | |
| ENST00000673639.2:c.280-1502G>A | ||
| ENST00000676696.1:c.7451G>A | ENSP00000503392.1:n.7451G>A | |
| ENST00000678304.1:n.2890G>A | ||
| ENST00000344736.8:c.7052G>A | ENSP00000358863.3:p.Arg2351His | |
| ENST00000360319.8:c.7148G>A | ENSP00000353467.4:p.Arg2383His | |
| ENST00000369850.7:c.7172G>A | ENSP00000358866.3:p.Arg2391His | |
| ENST00000369856.7:c.7091G>A | ENSP00000358872.4:p.Arg2364His | |
| ENST00000420627.5:c.7128G>A | ENSP00000408921.1:n.7128G>A | |
| ENST00000422373.5:c.7148G>A | ENSP00000416926.1:p.Arg2383His | |
| ENST00000462590.1:n.164G>A | ||
| ENST00000490936.5:n.4401G>A | ||
| ENST00000498411.1:n.68-1362G>A | ||
| ENST00000498491.5:n.213G>A | ||
| ENST00000610817.4:c.6176G>A | ENSP00000480593.1:p.Arg2059His | |
| NM_001110556.1:c.7172G>A | NP_001104026.1:p.Arg2391His | |
| NM_001456.3:c.7148G>A | NP_001447.2:p.Arg2383His | |
| XM_011531127.1:c.7076G>A | XP_011529429.1:p.Arg2359His | |
| XM_011531128.1:c.7052G>A | XP_011529430.1:p.Arg2351His | |
| XM_011531129.1:c.6998G>A | XP_011529431.1:p.Arg2333His | |
| XM_011531130.1:c.6974G>A | XP_011529432.1:p.Arg2325His | |
| XM_011531131.1:c.6971G>A | XP_011529433.1:p.Arg2324His | |
| NM_001110556.2:c.7172G>A MANE Select | NP_001104026.1:p.Arg2391His | |
| NM_001456.4:c.7148G>A | NP_001447.2:p.Arg2383His |