Linked Data
ClinVar Variation Id:
947313
dbSNP Id:
rs369796310
ExAC:
20:45353845 G / T
gnomAD v2:
20-45353845-G-T
gnomAD v3:
20-46725206-G-T
gnomAD v4:
20-46725206-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.46725206G>T , CM000682.2:g.46725206G>T | GRCh38 |
| NC_000020.10:g.45353845G>T , CM000682.1:g.45353845G>T | GRCh37 |
| NC_000020.9:g.44787252G>T | NCBI36 |
| NG_016284.1:g.20567G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000359271.4:c.170G>T MANE Select | ENSP00000352216.2:p.Gly57Val | |
| ENST00000359271.3:c.170G>T | ENSP00000352216.2:p.Gly57Val | |
| ENST00000611837.1:n.322G>T | ||
| NM_030777.3:c.170G>T | NP_110404.1:p.Gly57Val | |
| XM_011529060.1:c.233G>T | XP_011527362.1:p.Gly78Val | |
| XM_011529061.1:c.179G>T | XP_011527363.1:p.Gly60Val | |
| XM_011529062.1:c.233G>T | XP_011527364.1:p.Gly78Val | |
| XM_011529063.1:c.233G>T | XP_011527365.1:p.Gly78Val | |
| XM_011529064.1:c.233G>T | XP_011527366.1:p.Gly78Val | |
| XM_011529065.1:c.233G>T | XP_011527367.1:p.Gly78Val | |
| XR_936641.1:n.369G>T | ||
| XM_011529060.2:c.233G>T | XP_011527362.1:p.Gly78Val | |
| XM_011529061.2:c.179G>T | XP_011527363.1:p.Gly60Val | |
| XM_011529062.2:c.233G>T | XP_011527364.1:p.Gly78Val | |
| XM_011529063.2:c.233G>T | XP_011527365.1:p.Gly78Val | |
| XM_011529064.2:c.233G>T | XP_011527366.1:p.Gly78Val | |
| XM_011529065.2:c.233G>T | XP_011527367.1:p.Gly78Val | |
| XM_017028087.2:c.170G>T | XP_016883576.1:p.Gly57Val | |
| XR_936641.2:n.356G>T | ||
| NM_030777.4:c.170G>T MANE Select | NP_110404.1:p.Gly57Val |