Linked Data
ClinVar Variation Id:
440279
dbSNP Id:
rs371988251
ExAC:
20:45353855 C / T
gnomAD v2:
20-45353855-C-T
gnomAD v3:
20-46725216-C-T
gnomAD v4:
20-46725216-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.46725216C>T , CM000682.2:g.46725216C>T | GRCh38 |
| NC_000020.10:g.45353855C>T , CM000682.1:g.45353855C>T | GRCh37 |
| NC_000020.9:g.44787262C>T | NCBI36 |
| NG_016284.1:g.20577C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000359271.4:c.180C>T MANE Select | ENSP00000352216.2:p.Leu60= | |
| ENST00000359271.3:c.180C>T | ENSP00000352216.2:p.Leu60= | |
| ENST00000611837.1:n.332C>T | ||
| NM_030777.3:c.180C>T | NP_110404.1:p.Leu60= | |
| XM_011529060.1:c.243C>T | XP_011527362.1:p.Leu81= | |
| XM_011529061.1:c.189C>T | XP_011527363.1:p.Leu63= | |
| XM_011529062.1:c.243C>T | XP_011527364.1:p.Leu81= | |
| XM_011529063.1:c.243C>T | XP_011527365.1:p.Leu81= | |
| XM_011529064.1:c.243C>T | XP_011527366.1:p.Leu81= | |
| XM_011529065.1:c.243C>T | XP_011527367.1:p.Leu81= | |
| XR_936641.1:n.379C>T | ||
| XM_011529060.2:c.243C>T | XP_011527362.1:p.Leu81= | |
| XM_011529061.2:c.189C>T | XP_011527363.1:p.Leu63= | |
| XM_011529062.2:c.243C>T | XP_011527364.1:p.Leu81= | |
| XM_011529063.2:c.243C>T | XP_011527365.1:p.Leu81= | |
| XM_011529064.2:c.243C>T | XP_011527366.1:p.Leu81= | |
| XM_011529065.2:c.243C>T | XP_011527367.1:p.Leu81= | |
| XM_017028087.2:c.180C>T | XP_016883576.1:p.Leu60= | |
| XR_936641.2:n.366C>T | ||
| NM_030777.4:c.180C>T MANE Select | NP_110404.1:p.Leu60= |