Linked Data
ClinVar Variation Id:
938804
dbSNP Id:
rs372716583
ExAC:
3:38793972 C / T
gnomAD v2:
3-38793972-C-T
gnomAD v3:
3-38752481-C-T
gnomAD v4:
3-38752481-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.38752481C>T , CM000665.2:g.38752481C>T | GRCh38 |
| NC_000003.11:g.38793972C>T , CM000665.1:g.38793972C>T | GRCh37 |
| NC_000003.10:g.38768976C>T | NCBI36 |
| NG_031891.2:g.46530G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000449082.3:c.1493G>A MANE Select | ENSP00000390600.2:p.Arg498Gln | |
| ENST00000643924.1:c.1493G>A | ENSP00000495595.1:p.Arg498Gln | |
| ENST00000655275.1:c.1520G>A | ENSP00000499510.1:p.Arg507Gln | |
| ENST00000449082.2:c.1493G>A | ENSP00000390600.2:p.Arg498Gln | |
| NM_001293306.2:c.1493G>A | NP_001280235.2:p.Arg498Gln | |
| NM_001293307.2:c.1462-2297G>A | NP_001280236.2:n.1462-2297G>A | |
| NM_006514.3:c.1493G>A | NP_006505.3:p.Arg498Gln | |
| XM_005265371.2:c.1502G>A | XP_005265428.1:p.Arg501Gln | |
| XM_011533993.1:c.1502G>A | XP_011532295.1:p.Arg501Gln | |
| XM_011533994.1:c.1471-2297G>A | XP_011532296.1:n.1471-2297G>A | |
| XM_005265371.3:c.1502G>A | XP_005265428.1:p.Arg501Gln | |
| XM_011533993.2:c.1502G>A | XP_011532295.1:p.Arg501Gln | |
| XM_011533994.2:c.1471-2297G>A | XP_011532296.1:n.1471-2297G>A | |
| NM_006514.4:c.1493G>A MANE Select | NP_006505.4:p.Arg498Gln |