Linked Data
dbSNP Id:
rs760232424
ExAC:
8:37630404 G / A
gnomAD v2:
8-37630404-G-A
gnomAD v4:
8-37772886-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.37772886G>A , CM000670.2:g.37772886G>A | GRCh38 |
| NC_000008.10:g.37630404G>A , CM000670.1:g.37630404G>A | GRCh37 |
| NC_000008.9:g.37749562G>A | NCBI36 |
| NG_053030.1:g.16134G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000328195.8:c.451G>A MANE Select | ENSP00000333551.3:p.Glu151Lys | |
| ENST00000328195.7:c.451G>A | ENSP00000333551.3:p.Glu151Lys | |
| ENST00000521631.1:n.134G>A | ||
| ENST00000523187.5:c.295G>A | ENSP00000427886.1:p.Glu99Lys | |
| ENST00000523358.5:c.451G>A | ENSP00000427778.1:p.Glu151Lys | |
| ENST00000523521.1:c.208G>A | ENSP00000429425.1:p.Glu70Lys | |
| NM_007198.3:c.451G>A | NP_009129.1:p.Glu151Lys | |
| NM_001349346.1:c.451G>A | NP_001336275.1:p.Glu151Lys | |
| NM_001349347.1:c.445G>A | NP_001336276.1:p.Glu149Lys | |
| NM_001349348.1:c.295G>A | NP_001336277.1:p.Glu99Lys | |
| NM_007198.4:c.451G>A MANE Select | NP_009129.1:p.Glu151Lys | |
| NM_001349346.2:c.451G>A | NP_001336275.1:p.Glu151Lys | |
| NM_001349347.2:c.445G>A | NP_001336276.1:p.Glu149Lys | |
| NM_001349348.2:c.295G>A | NP_001336277.1:p.Glu99Lys |