Linked Data
ClinVar Variation Id:
558762
dbSNP Id:
rs978909925
gnomAD v2:
2-20113420-C-T
gnomAD v3:
2-19913659-C-T
gnomAD v4:
2-19913659-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.19913659C>T , CM000664.2:g.19913659C>T | GRCh38 |
| NC_000002.11:g.20113420C>T , CM000664.1:g.20113420C>T | GRCh37 |
| NC_000002.10:g.19976901C>T | NCBI36 |
| NG_021212.1:g.81465G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000281405.9:c.3412G>A MANE Select | ENSP00000281405.5:p.Glu1138Lys | |
| ENST00000345530.8:c.3445G>A MANE Plus Clinical | ENSP00000314444.5:p.Glu1149Lys | |
| ENST00000281405.8:c.3412G>A | ENSP00000281405.4:p.Glu1138Lys | |
| ENST00000345530.7:c.3445G>A | ENSP00000314444.5:p.Glu1149Lys | |
| ENST00000414212.5:c.*727G>A | ENSP00000390802.1:n.*727G>A | |
| ENST00000445063.5:c.2371G>A | ||
| NM_001006657.1:c.3445G>A | NP_001006658.1:p.Glu1149Lys | |
| NM_020779.3:c.3412G>A | NP_065830.2:p.Glu1138Lys | |
| XM_011533007.1:c.2140G>A | XP_011531309.1:p.Glu714Lys | |
| XM_011533007.2:c.2140G>A | XP_011531309.1:p.Glu714Lys | |
| XR_426989.3:n.3345G>A | ||
| NM_001006657.2:c.3445G>A MANE Plus Clinical | NP_001006658.1:p.Glu1149Lys | |
| NM_020779.4:c.3412G>A MANE Select | NP_065830.2:p.Glu1138Lys |