Linked Data
ClinVar Variation Id:
410383
dbSNP Id:
rs758087836
ExAC:
1:173879038 C / T
gnomAD v2:
1-173879038-C-T
gnomAD v3:
1-173909900-C-T
gnomAD v4:
1-173909900-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.173909900C>T , CM000663.2:g.173909900C>T | GRCh38 |
| NC_000001.10:g.173879038C>T , CM000663.1:g.173879038C>T | GRCh37 |
| NC_000001.9:g.172145661C>T | NCBI36 |
| NG_012462.1:g.12479G>A , LRG_577:g.12479G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367698.4:c.805G>A MANE Select | ENSP00000356671.3:p.Glu269Lys | |
| ENST00000367698.3:c.805G>A | ENSP00000356671.3:p.Glu269Lys | |
| ENST00000487183.1:n.456G>A | ||
| ENST00000617423.4:c.559+1964G>A | ENSP00000478688.1:n.559+1964G>A | |
| NM_000488.3:c.805G>A , LRG_577t1:c.805G>A | NP_000479.1:p.Glu269Lys | |
| XM_005245198.2:c.661G>A | XP_005245255.1:p.Glu221Lys | |
| NM_001365052.1:c.661G>A | NP_001351981.1:p.Glu221Lys | |
| NM_000488.4:c.805G>A MANE Select | NP_000479.1:p.Glu269Lys | |
| NM_001365052.2:c.661G>A | NP_001351981.1:p.Glu221Lys | |
| NM_001386302.1:c.928G>A | NP_001373231.1:p.Glu310Lys | |
| NM_001386303.1:c.886G>A | NP_001373232.1:p.Glu296Lys | |
| NM_001386304.1:c.784G>A | NP_001373233.1:p.Glu262Lys | |
| NM_001386305.1:c.763-15G>A | NP_001373234.1:n.763-15G>A | |
| NM_001386306.1:c.589G>A | NP_001373235.1:p.Glu197Lys |