Linked Data
ClinVar Variation Id:
3136650
ClinVar RCV Id:
RCV004434498
dbSNP Id:
rs749733927
ExAC:
12:54107991 C / T
gnomAD v2:
12-54107991-C-T
gnomAD v3:
12-53714207-C-T
gnomAD v4:
12-53714207-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.53714207C>T , CM000674.2:g.53714207C>T | GRCh38 |
| NC_000012.11:g.54107991C>T , CM000674.1:g.54107991C>T | GRCh37 |
| NC_000012.10:g.52394258C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000550804.6:c.1517G>A MANE Select | ENSP00000449960.1:p.Arg506His | |
| ENST00000262059.8:c.1517G>A | ENSP00000262059.4:p.Arg506His | |
| ENST00000430117.6:c.1262G>A | ENSP00000397189.2:p.Arg421His | |
| ENST00000546443.5:c.67G>A | ||
| ENST00000548263.5:c.1517G>A | ENSP00000447647.1:p.Arg506His | |
| ENST00000549613.1:n.814G>A | ||
| ENST00000549935.6:n.1569G>A | ||
| ENST00000550804.5:c.1517G>A | ENSP00000449960.1:p.Arg506His | |
| NM_001143682.1:c.1262G>A | NP_001137154.1:p.Arg421His | |
| NM_020898.2:c.1517G>A | NP_065949.1:p.Arg506His | |
| NR_026554.1:n.1558G>A | ||
| XM_011538601.1:c.1517G>A | XP_011536903.1:p.Arg506His | |
| XM_011538602.1:c.1517G>A | XP_011536904.1:p.Arg506His | |
| XM_011538603.1:c.1517G>A | XP_011536905.1:p.Arg506His | |
| XM_011538604.1:c.1517G>A | XP_011536906.1:p.Arg506His | |
| XM_011538603.2:c.1517G>A | XP_011536905.1:p.Arg506His | |
| XM_011538604.2:c.1517G>A | XP_011536906.1:p.Arg506His | |
| XM_017019707.1:c.1517G>A | XP_016875196.1:p.Arg506His | |
| XM_017019708.2:c.548G>A | XP_016875197.1:p.Arg183His | |
| XM_017019709.2:c.548G>A | XP_016875198.1:p.Arg183His | |
| NM_020898.3:c.1517G>A MANE Select | NP_065949.1:p.Arg506His | |
| NM_001143682.2:c.1262G>A | NP_001137154.1:p.Arg421His | |
| NR_026554.2:n.1487G>A |