Linked Data
ClinVar Variation Id:
1938739
ClinVar RCV Id:
RCV002646499
dbSNP Id:
rs868405698
gnomAD v4:
21-46366938-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.46366938G>T , CM000683.2:g.46366938G>T | GRCh38 |
| NC_000021.8:g.47786853G>T , CM000683.1:g.47786853G>T | GRCh37 |
| NC_000021.7:g.46611281G>T | NCBI36 |
| NG_008961.1:g.47818G>T | |
| NG_008961.2:g.47817G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000466474.6:c.*1460G>T | ENSP00000511987.1:n.*1460G>T | |
| ENST00000695525.1:n.3050G>T | ||
| ENST00000695558.1:c.2964G>T | ENSP00000512015.1:p.Gln988His | |
| ENST00000703224.1:c.*2207G>T | ENSP00000515242.1:n.*2207G>T | |
| ENST00000359568.10:c.2964G>T MANE Select | ENSP00000352572.5:p.Gln988His | |
| ENST00000359568.9:c.2964G>T | ENSP00000352572.5:p.Gln988His | |
| ENST00000480896.5:n.3233G>T | ||
| NM_001315529.1:c.2610G>T | NP_001302458.1:p.Gln870His | |
| NM_006031.5:c.2964G>T | NP_006022.3:p.Gln988His | |
| XM_005261124.3:c.2964G>T | XP_005261181.1:p.Gln988His | |
| XM_011529593.1:c.3045G>T | XP_011527895.1:p.Gln1015His | |
| XM_011529594.1:c.3045G>T | XP_011527896.1:p.Gln1015His | |
| XM_005261124.5:c.2964G>T | XP_005261181.1:p.Gln988His | |
| XM_011529594.3:c.3045G>T | XP_011527896.1:p.Gln1015His | |
| XM_017028362.2:c.2964G>T | XP_016883851.1:p.Gln988His | |
| XM_017028363.1:c.2610G>T | XP_016883852.1:p.Gln870His | |
| XM_024452082.1:c.1848G>T | XP_024307850.1:p.Gln616His | |
| XM_024452083.1:c.744G>T | XP_024307851.1:p.Gln248His | |
| NM_006031.6:c.2964G>T MANE Select | NP_006022.3:p.Gln988His | |
| NM_001315529.2:c.2610G>T | NP_001302458.1:p.Gln870His |