Linked Data
ClinVar Variation Id:
339447
dbSNP Id:
rs550273913
gnomAD v2:
20-62567308-C-G
gnomAD v3:
20-63935955-C-G
gnomAD v4:
20-63935955-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.63935955C>G , CM000682.2:g.63935955C>G | GRCh38 |
| NC_000020.10:g.62567308C>G , CM000682.1:g.62567308C>G | GRCh37 |
| NC_000020.9:g.62037752C>G | NCBI36 |
| NG_029805.1:g.45854C>G | |
| NG_029805.2:g.45854C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360864.9:c.*4387C>G MANE Select | ENSP00000354111.4:n.*4387C>G | |
| ENST00000360864.8:c.*4387C>G | ENSP00000354111.4:n.*4387C>G | |
| ENST00000470551.1:c.*4554C>G | ENSP00000434744.1:n.*4554C>G | |
| NM_025219.2:c.*4387C>G | NP_079495.1:n.*4387C>G | |
| XM_011529048.1:c.*4387C>G | XP_011527350.1:n.*4387C>G | |
| XM_011529049.1:c.*4387C>G | XP_011527351.1:n.*4387C>G | |
| XM_011529050.1:c.*4387C>G | XP_011527352.1:n.*4387C>G | |
| XR_936629.1:n.5690C>G | ||
| XR_936630.1:n.5948C>G | ||
| XM_011529048.2:c.*4387C>G | XP_011527350.1:n.*4387C>G | |
| XR_936629.2:n.5703C>G | ||
| NM_025219.3:c.*4387C>G MANE Select | NP_079495.1:n.*4387C>G |