Linked Data
dbSNP Id:
rs1051794
ExAC:
6:31379109 G / A
gnomAD v2:
6-31379109-G-A
gnomAD v3:
6-31411332-G-A
gnomAD v4:
6-31411332-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31411332G>A , CM000668.2:g.31411332G>A | GRCh38 |
| NC_000006.11:g.31379109G>A , CM000668.1:g.31379109G>A | GRCh37 |
| NC_000006.10:g.31487088G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000449934.7:c.586G>A MANE Select | ENSP00000413079.1:p.Glu196Lys | |
| ENST00000673996.1:n.595G>A | ||
| ENST00000674069.1:c.172G>A | ENSP00000501157.1:p.Glu58Lys | |
| ENST00000421350.1:c.286+535G>A | ENSP00000402410.1:n.286+535G>A | |
| ENST00000449934.6:c.586G>A | ENSP00000413079.1:p.Glu196Lys | |
| ENST00000616296.4:c.295G>A | ENSP00000482382.1:p.Glu99Lys | |
| NM_001177519.2:c.586G>A | NP_001170990.1:p.Glu196Lys | |
| NM_001289152.1:c.295G>A | NP_001276081.1:p.Glu99Lys | |
| NM_001289153.1:c.295G>A | NP_001276082.1:p.Glu99Lys | |
| NM_001289154.1:c.172G>A | NP_001276083.1:p.Glu58Lys | |
| NM_001177519.3:c.586G>A MANE Select | NP_001170990.1:p.Glu196Lys | |
| NM_001289152.2:c.295G>A | NP_001276081.1:p.Glu99Lys | |
| NM_001289153.2:c.295G>A | NP_001276082.1:p.Glu99Lys | |
| NM_001289154.2:c.172G>A | NP_001276083.1:p.Glu58Lys |