Linked Data
ClinVar Variation Id:
279964
dbSNP Id:
rs774528745
ExAC:
2:223086087 C / T
gnomAD v2:
2-223086087-C-T
gnomAD v4:
2-222221368-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.222221368C>T , CM000664.2:g.222221368C>T | GRCh38 |
| NC_000002.11:g.223086087C>T , CM000664.1:g.223086087C>T | GRCh37 |
| NC_000002.10:g.222794331C>T | NCBI36 |
| NG_011632.1:g.82614G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000336840.11:c.812G>A | ENSP00000338767.5:p.Arg271His | |
| ENST00000344493.9:c.812G>A | ENSP00000342092.4:p.Arg271His | |
| ENST00000350526.9:c.812G>A | ENSP00000343052.4:p.Arg271His | |
| ENST00000392070.7:c.812G>A MANE Select | ENSP00000375922.3:p.Arg271His | |
| ENST00000464706.6:n.250G>A | ||
| ENST00000644699.1:n.138G>A | ||
| ENST00000644937.1:n.84G>A | ||
| ENST00000646154.1:n.626G>A | ||
| ENST00000336840.10:c.812G>A | ENSP00000338767.5:p.Arg271His | |
| ENST00000344493.8:c.812G>A | ENSP00000342092.4:p.Arg271His | |
| ENST00000350526.8:c.812G>A | ENSP00000343052.4:p.Arg271His | |
| ENST00000392069.6:c.812G>A | ENSP00000375921.2:p.Arg271His | |
| ENST00000392070.6:c.812G>A | ENSP00000375922.2:p.Arg271His | |
| ENST00000409551.7:c.809G>A | ENSP00000386750.3:p.Arg270His | |
| ENST00000464706.5:n.236G>A | ||
| ENST00000555548.1:n.43G>A | ||
| NM_001127366.2:c.809G>A | NP_001120838.1:p.Arg270His | |
| NM_181457.3:c.812G>A | NP_852122.1:p.Arg271His | |
| NM_181458.3:c.812G>A | NP_852123.1:p.Arg271His | |
| NM_181459.3:c.812G>A | NP_852124.1:p.Arg271His | |
| NM_181460.3:c.812G>A | NP_852125.1:p.Arg271His | |
| NM_181461.3:c.812G>A | NP_852126.1:p.Arg271His | |
| XM_011511278.1:c.956G>A | XP_011509580.1:p.Arg319His | |
| XM_011511279.1:c.248G>A | XP_011509581.1:p.Arg83His | |
| NM_001127366.3:c.809G>A | NP_001120838.1:p.Arg270His | |
| NM_181457.4:c.812G>A | NP_852122.1:p.Arg271His | |
| NM_181458.4:c.812G>A MANE Select | NP_852123.1:p.Arg271His | |
| NM_181459.4:c.812G>A | NP_852124.1:p.Arg271His | |
| NM_181460.4:c.812G>A | NP_852125.1:p.Arg271His | |
| NM_181461.4:c.812G>A | NP_852126.1:p.Arg271His |