Linked Data
ClinVar Variation Id:
875607
ClinVar RCV Id:
RCV001099620
dbSNP Id:
rs200857896
ExAC:
1:173878868 G / C
gnomAD v2:
1-173878868-G-C
gnomAD v3:
1-173909730-G-C
gnomAD v4:
1-173909730-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.173909730G>C , CM000663.2:g.173909730G>C | GRCh38 |
| NC_000001.10:g.173878868G>C , CM000663.1:g.173878868G>C | GRCh37 |
| NC_000001.9:g.172145491G>C | NCBI36 |
| NG_012462.1:g.12649C>G , LRG_577:g.12649C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367698.4:c.975C>G MANE Select | ENSP00000356671.3:p.Ala325= | |
| ENST00000367698.3:c.975C>G | ENSP00000356671.3:p.Ala325= | |
| ENST00000487183.1:n.626C>G | ||
| ENST00000617423.4:c.559+2134C>G | ENSP00000478688.1:n.559+2134C>G | |
| NM_000488.3:c.975C>G , LRG_577t1:c.975C>G | NP_000479.1:p.Ala325= | |
| XM_005245198.2:c.831C>G | XP_005245255.1:p.Ala277= | |
| NM_001365052.1:c.831C>G | NP_001351981.1:p.Ala277= | |
| NM_000488.4:c.975C>G MANE Select | NP_000479.1:p.Ala325= | |
| NM_001365052.2:c.831C>G | NP_001351981.1:p.Ala277= | |
| NM_001386302.1:c.1098C>G | NP_001373231.1:p.Ala366= | |
| NM_001386303.1:c.1056C>G | NP_001373232.1:p.Ala352= | |
| NM_001386304.1:c.954C>G | NP_001373233.1:p.Ala318= | |
| NM_001386305.1:c.918C>G | NP_001373234.1:p.Ala306= | |
| NM_001386306.1:c.759C>G | NP_001373235.1:p.Ala253= |