Linked Data
ClinVar Variation Id:
1603357
dbSNP Id:
rs778830075
ExAC:
20:45353837 G / C
gnomAD v2:
20-45353837-G-C
gnomAD v4:
20-46725198-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.46725198G>C , CM000682.2:g.46725198G>C | GRCh38 |
| NC_000020.10:g.45353837G>C , CM000682.1:g.45353837G>C | GRCh37 |
| NC_000020.9:g.44787244G>C | NCBI36 |
| NG_016284.1:g.20559G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000359271.4:c.162G>C MANE Select | ENSP00000352216.2:p.Leu54= | |
| ENST00000359271.3:c.162G>C | ENSP00000352216.2:p.Leu54= | |
| ENST00000611837.1:n.314G>C | ||
| NM_030777.3:c.162G>C | NP_110404.1:p.Leu54= | |
| XM_011529060.1:c.225G>C | XP_011527362.1:p.Leu75= | |
| XM_011529061.1:c.171G>C | XP_011527363.1:p.Leu57= | |
| XM_011529062.1:c.225G>C | XP_011527364.1:p.Leu75= | |
| XM_011529063.1:c.225G>C | XP_011527365.1:p.Leu75= | |
| XM_011529064.1:c.225G>C | XP_011527366.1:p.Leu75= | |
| XM_011529065.1:c.225G>C | XP_011527367.1:p.Leu75= | |
| XR_936641.1:n.361G>C | ||
| XM_011529060.2:c.225G>C | XP_011527362.1:p.Leu75= | |
| XM_011529061.2:c.171G>C | XP_011527363.1:p.Leu57= | |
| XM_011529062.2:c.225G>C | XP_011527364.1:p.Leu75= | |
| XM_011529063.2:c.225G>C | XP_011527365.1:p.Leu75= | |
| XM_011529064.2:c.225G>C | XP_011527366.1:p.Leu75= | |
| XM_011529065.2:c.225G>C | XP_011527367.1:p.Leu75= | |
| XM_017028087.2:c.162G>C | XP_016883576.1:p.Leu54= | |
| XR_936641.2:n.348G>C | ||
| NM_030777.4:c.162G>C MANE Select | NP_110404.1:p.Leu54= |