Linked Data
ClinVar Variation Id:
446449
ClinVar RCV Id:
RCV000515741
dbSNP Id:
rs1264310782
gnomAD v2:
10-73559336-G-A
gnomAD v3:
10-71799579-G-A
gnomAD v4:
10-71799579-G-A
PubMed:
PMID:25963016
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.71799579G>A , CM000672.2:g.71799579G>A | GRCh38 |
| NC_000010.10:g.73559336G>A , CM000672.1:g.73559336G>A | GRCh37 |
| NC_000010.9:g.73229342G>A | NCBI36 |
| NG_008835.1:g.407633G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000224721.12:c.7312G>A MANE Select | ENSP00000224721.9:p.Glu2438Lys | |
| ENST00000642965.1:c.1245G>A | ENSP00000495222.1:n.1245G>A | |
| ENST00000647092.1:c.909G>A | ENSP00000495176.1:n.909G>A | |
| ENST00000224721.10:c.7327G>A | ENSP00000224721.8:p.Glu2443Lys | |
| ENST00000398788.4:c.592G>A | ENSP00000381768.3:p.Glu198Lys | |
| ENST00000475158.1:n.848G>A | ||
| ENST00000619887.4:c.592G>A | ENSP00000478374.1:p.Glu198Lys | |
| ENST00000622827.4:c.7312G>A | ENSP00000483211.1:p.Glu2438Lys | |
| NM_001171933.1:c.592G>A | NP_001165404.1:p.Glu198Lys | |
| NM_001171934.1:c.592G>A | NP_001165405.1:p.Glu198Lys | |
| NM_022124.5:c.7312G>A | NP_071407.4:p.Glu2438Lys | |
| XM_006717940.2:c.7507G>A | XP_006718003.1:p.Glu2503Lys | |
| XM_006717942.2:c.7441G>A | XP_006718005.1:p.Glu2481Lys | |
| XM_011540039.1:c.7504G>A | XP_011538341.1:p.Glu2502Lys | |
| XM_011540040.1:c.7501G>A | XP_011538342.1:p.Glu2501Lys | |
| XM_011540041.1:c.7447G>A | XP_011538343.1:p.Glu2483Lys | |
| XM_011540042.1:c.7417G>A | XP_011538344.1:p.Glu2473Lys | |
| XM_011540043.1:c.7507G>A | XP_011538345.1:p.Glu2503Lys | |
| XM_011540044.1:c.7372G>A | XP_011538346.1:p.Glu2458Lys | |
| XM_011540045.1:c.7507G>A | XP_011538347.1:p.Glu2503Lys | |
| XM_011540046.1:c.6967G>A | XP_011538348.1:p.Glu2323Lys | |
| XM_011540047.1:c.6325G>A | XP_011538349.1:p.Glu2109Lys | |
| XM_011540052.1:c.3835G>A | XP_011538354.1:p.Glu1279Lys | |
| NM_022124.6:c.7312G>A MANE Select | NP_071407.4:p.Glu2438Lys |