Linked Data
ClinVar Variation Id:
294716
dbSNP Id:
rs533353353
ExAC:
1:201016734 C / T
gnomAD v2:
1-201016734-C-T
gnomAD v3:
1-201047606-C-T
gnomAD v4:
1-201047606-C-T
COSMIC:
COSM3481400
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.201047606C>T , CM000663.2:g.201047606C>T | GRCh38 |
| NC_000001.10:g.201016734C>T , CM000663.1:g.201016734C>T | GRCh37 |
| NC_000001.9:g.199283357C>T | NCBI36 |
| NG_009816.1:g.69961G>A | |
| NG_009816.2:g.69961G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000362061.4:c.4462G>A MANE Select | ENSP00000355192.3:p.Glu1488Lys | |
| ENST00000679417.1:c.*3625G>A | ENSP00000506706.1:n.*3625G>A | |
| ENST00000680051.1:n.1588G>A | ||
| ENST00000680059.1:c.*1980G>A | ENSP00000504944.1:n.*1980G>A | |
| ENST00000681078.1:c.*237G>A | ENSP00000506645.1:n.*237G>A | |
| ENST00000681190.1:c.*644G>A | ENSP00000506428.1:n.*644G>A | |
| ENST00000681874.1:c.4402G>A | ENSP00000505162.1:p.Glu1468Lys | |
| ENST00000362061.3:c.4462G>A | ENSP00000355192.3:p.Glu1488Lys | |
| ENST00000367338.7:c.4405G>A | ENSP00000356307.3:p.Glu1469Lys | |
| NM_000069.2:c.4462G>A | NP_000060.2:p.Glu1488Lys | |
| XM_005245478.2:c.4405G>A | XP_005245535.1:p.Glu1469Lys | |
| XM_005245478.3:c.4405G>A | XP_005245535.1:p.Glu1469Lys | |
| NM_000069.3:c.4462G>A MANE Select | NP_000060.2:p.Glu1488Lys |