Linked Data
ClinVar Variation Id:
1312055
ClinVar RCV Id:
RCV001761276
dbSNP Id:
rs1210937889
gnomAD v2:
1-173878882-C-T
gnomAD v3:
1-173909744-C-T
gnomAD v4:
1-173909744-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.173909744C>T , CM000663.2:g.173909744C>T | GRCh38 |
| NC_000001.10:g.173878882C>T , CM000663.1:g.173878882C>T | GRCh37 |
| NC_000001.9:g.172145505C>T | NCBI36 |
| NG_012462.1:g.12635G>A , LRG_577:g.12635G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367698.4:c.961G>A MANE Select | ENSP00000356671.3:p.Glu321Lys | |
| ENST00000367698.3:c.961G>A | ENSP00000356671.3:p.Glu321Lys | |
| ENST00000487183.1:n.612G>A | ||
| ENST00000617423.4:c.559+2120G>A | ENSP00000478688.1:n.559+2120G>A | |
| NM_000488.3:c.961G>A , LRG_577t1:c.961G>A | NP_000479.1:p.Glu321Lys | |
| XM_005245198.2:c.817G>A | XP_005245255.1:p.Glu273Lys | |
| NM_001365052.1:c.817G>A | NP_001351981.1:p.Glu273Lys | |
| NM_000488.4:c.961G>A MANE Select | NP_000479.1:p.Glu321Lys | |
| NM_001365052.2:c.817G>A | NP_001351981.1:p.Glu273Lys | |
| NM_001386302.1:c.1084G>A | NP_001373231.1:p.Glu362Lys | |
| NM_001386303.1:c.1042G>A | NP_001373232.1:p.Glu348Lys | |
| NM_001386304.1:c.940G>A | NP_001373233.1:p.Glu314Lys | |
| NM_001386305.1:c.904G>A | NP_001373234.1:p.Glu302Lys | |
| NM_001386306.1:c.745G>A | NP_001373235.1:p.Glu249Lys |