Linked Data
ClinVar Variation Id:
1052566
ClinVar RCV Id:
RCV001360780
dbSNP Id:
rs1586524391
gnomAD v4:
7-143351939-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.143351939G>A , CM000669.2:g.143351939G>A | GRCh38 |
| NC_000007.13:g.143049032G>A , CM000669.1:g.143049032G>A | GRCh37 |
| NC_000007.12:g.142759154G>A | NCBI36 |
| NG_009815.1:g.40814G>A | |
| NG_009815.2:g.40814G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650516.2:c.2941G>A | ENSP00000498052.2:p.Glu981Lys | |
| ENST00000343257.7:c.2941G>A MANE Select | ENSP00000339867.2:p.Glu981Lys | |
| ENST00000343257.6:c.2941G>A | ENSP00000339867.2:p.Glu981Lys | |
| NM_000083.2:c.2941G>A | NP_000074.2:p.Glu981Lys | |
| NR_046453.1:n.2881G>A | ||
| XM_011515781.1:c.2965G>A | XP_011514083.1:p.Glu989Lys | |
| XM_011515782.1:c.1687G>A | XP_011514084.1:p.Glu563Lys | |
| XM_011515782.2:c.1687G>A | XP_011514084.1:p.Glu563Lys | |
| XM_017011739.1:c.2515G>A | XP_016867228.1:p.Glu839Lys | |
| XM_017011740.1:c.2491G>A | XP_016867229.1:p.Glu831Lys | |
| NM_000083.3:c.2941G>A MANE Select | NP_000074.3:p.Glu981Lys | |
| NR_046453.2:n.2896G>A |