Linked Data
ClinVar Variation Id:
211897
dbSNP Id:
rs372044180
ExAC:
12:9089920 C / T
gnomAD v2:
12-9089920-C-T
gnomAD v3:
12-8937324-C-T
gnomAD v4:
12-8937324-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.8937324C>T , CM000674.2:g.8937324C>T | GRCh38 |
| NC_000012.11:g.9089920C>T , CM000674.1:g.9089920C>T | GRCh37 |
| NC_000012.10:g.8981187C>T | NCBI36 |
| NG_042273.1:g.27605C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000544916.6:c.2626C>T MANE Select | ENSP00000437659.1:p.Arg876Trp | |
| ENST00000433083.6:c.2491C>T | ENSP00000399194.2:p.Arg831Trp | |
| ENST00000540574.5:c.*1476C>T | ENSP00000444308.1:n.*1476C>T | |
| ENST00000542346.1:c.284-2547C>T | ENSP00000446388.1:n.284-2547C>T | |
| ENST00000543824.5:c.2626C>T | ENSP00000440674.1:p.Arg876Trp | |
| ENST00000544916.5:c.2626C>T | ENSP00000437659.1:p.Arg876Trp | |
| NM_004426.2:c.2626C>T | NP_004417.2:p.Arg876Trp | |
| XM_005253334.1:c.2602C>T | XP_005253391.1:p.Arg868Trp | |
| XM_011520598.1:c.2677C>T | XP_011518900.1:p.Arg893Trp | |
| XM_011520599.1:c.2653C>T | XP_011518901.1:p.Arg885Trp | |
| XM_011520600.1:c.2527C>T | XP_011518902.1:p.Arg843Trp | |
| XM_011520601.1:c.2521C>T | XP_011518903.1:p.Arg841Trp | |
| XM_011520602.1:c.2470C>T | XP_011518904.1:p.Arg824Trp | |
| XM_011520603.1:c.2677C>T | XP_011518905.1:p.Arg893Trp | |
| XM_005253334.3:c.2602C>T | XP_005253391.1:p.Arg868Trp | |
| XM_011520599.2:c.2653C>T | XP_011518901.1:p.Arg885Trp | |
| XM_011520600.2:c.2527C>T | XP_011518902.1:p.Arg843Trp | |
| XM_011520603.2:c.2677C>T | XP_011518905.1:p.Arg893Trp | |
| XM_017018955.2:c.2677C>T | XP_016874444.1:p.Arg893Trp | |
| XM_017018956.1:c.2503C>T | XP_016874445.1:p.Arg835Trp | |
| XM_017018957.1:c.2476C>T | XP_016874446.1:p.Arg826Trp | |
| XM_017018958.1:c.2452C>T | XP_016874447.1:p.Arg818Trp | |
| NM_004426.3:c.2626C>T MANE Select | NP_004417.2:p.Arg876Trp |