Linked Data
ClinVar Variation Id:
213713
dbSNP Id:
rs144095826
ExAC:
20:45353992 C / G
gnomAD v2:
20-45353992-C-G
gnomAD v3:
20-46725353-C-G
gnomAD v4:
20-46725353-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.46725353C>G , CM000682.2:g.46725353C>G | GRCh38 |
| NC_000020.10:g.45353992C>G , CM000682.1:g.45353992C>G | GRCh37 |
| NC_000020.9:g.44787399C>G | NCBI36 |
| NG_016284.1:g.20714C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000359271.4:c.317C>G MANE Select | ENSP00000352216.2:p.Ala106Gly | |
| ENST00000359271.3:c.317C>G | ENSP00000352216.2:p.Ala106Gly | |
| ENST00000611837.1:n.469C>G | ||
| NM_030777.3:c.317C>G | NP_110404.1:p.Ala106Gly | |
| XM_011529060.1:c.380C>G | XP_011527362.1:p.Ala127Gly | |
| XM_011529061.1:c.326C>G | XP_011527363.1:p.Ala109Gly | |
| XM_011529062.1:c.380C>G | XP_011527364.1:p.Ala127Gly | |
| XM_011529063.1:c.380C>G | XP_011527365.1:p.Ala127Gly | |
| XM_011529064.1:c.380C>G | XP_011527366.1:p.Ala127Gly | |
| XM_011529065.1:c.380C>G | XP_011527367.1:p.Ala127Gly | |
| XR_936641.1:n.516C>G | ||
| XM_011529060.2:c.380C>G | XP_011527362.1:p.Ala127Gly | |
| XM_011529061.2:c.326C>G | XP_011527363.1:p.Ala109Gly | |
| XM_011529062.2:c.380C>G | XP_011527364.1:p.Ala127Gly | |
| XM_011529063.2:c.380C>G | XP_011527365.1:p.Ala127Gly | |
| XM_011529064.2:c.380C>G | XP_011527366.1:p.Ala127Gly | |
| XM_011529065.2:c.380C>G | XP_011527367.1:p.Ala127Gly | |
| XM_017028087.2:c.317C>G | XP_016883576.1:p.Ala106Gly | |
| XR_936641.2:n.503C>G | ||
| NM_030777.4:c.317C>G MANE Select | NP_110404.1:p.Ala106Gly |