Linked Data
ClinVar Variation Id:
293836
ClinVar RCV Id:
RCV000336934
dbSNP Id:
rs565091601
ExAC:
1:173878747 G / C
gnomAD v2:
1-173878747-G-C
gnomAD v3:
1-173909609-G-C
gnomAD v4:
1-173909609-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.173909609G>C , CM000663.2:g.173909609G>C | GRCh38 |
| NC_000001.10:g.173878747G>C , CM000663.1:g.173878747G>C | GRCh37 |
| NC_000001.9:g.172145370G>C | NCBI36 |
| NG_012462.1:g.12770C>G , LRG_577:g.12770C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367698.4:c.1096C>G MANE Select | ENSP00000356671.3:p.Gln366Glu | |
| ENST00000367698.3:c.1096C>G | ENSP00000356671.3:p.Gln366Glu | |
| ENST00000617423.4:c.560-2116C>G | ENSP00000478688.1:n.560-2116C>G | |
| NM_000488.3:c.1096C>G , LRG_577t1:c.1096C>G | NP_000479.1:p.Gln366Glu | |
| XM_005245198.2:c.952C>G | XP_005245255.1:p.Gln318Glu | |
| NM_001365052.1:c.952C>G | NP_001351981.1:p.Gln318Glu | |
| NM_000488.4:c.1096C>G MANE Select | NP_000479.1:p.Gln366Glu | |
| NM_001365052.2:c.952C>G | NP_001351981.1:p.Gln318Glu | |
| NM_001386302.1:c.1219C>G | NP_001373231.1:p.Gln407Glu | |
| NM_001386303.1:c.1177C>G | NP_001373232.1:p.Gln393Glu | |
| NM_001386304.1:c.1075C>G | NP_001373233.1:p.Gln359Glu | |
| NM_001386305.1:c.1039C>G | NP_001373234.1:p.Gln347Glu | |
| NM_001386306.1:c.880C>G | NP_001373235.1:p.Gln294Glu |