Linked Data
ClinVar Variation Id:
1013454
ClinVar RCV Id:
RCV001311990
dbSNP Id:
rs754120063
ExAC:
20:45353929 T / C
gnomAD v2:
20-45353929-T-C
gnomAD v4:
20-46725290-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.46725290T>C , CM000682.2:g.46725290T>C | GRCh38 |
| NC_000020.10:g.45353929T>C , CM000682.1:g.45353929T>C | GRCh37 |
| NC_000020.9:g.44787336T>C | NCBI36 |
| NG_016284.1:g.20651T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000359271.4:c.254T>C MANE Select | ENSP00000352216.2:p.Leu85Pro | |
| ENST00000359271.3:c.254T>C | ENSP00000352216.2:p.Leu85Pro | |
| ENST00000611837.1:n.406T>C | ||
| NM_030777.3:c.254T>C | NP_110404.1:p.Leu85Pro | |
| XM_011529060.1:c.317T>C | XP_011527362.1:p.Leu106Pro | |
| XM_011529061.1:c.263T>C | XP_011527363.1:p.Leu88Pro | |
| XM_011529062.1:c.317T>C | XP_011527364.1:p.Leu106Pro | |
| XM_011529063.1:c.317T>C | XP_011527365.1:p.Leu106Pro | |
| XM_011529064.1:c.317T>C | XP_011527366.1:p.Leu106Pro | |
| XM_011529065.1:c.317T>C | XP_011527367.1:p.Leu106Pro | |
| XR_936641.1:n.453T>C | ||
| XM_011529060.2:c.317T>C | XP_011527362.1:p.Leu106Pro | |
| XM_011529061.2:c.263T>C | XP_011527363.1:p.Leu88Pro | |
| XM_011529062.2:c.317T>C | XP_011527364.1:p.Leu106Pro | |
| XM_011529063.2:c.317T>C | XP_011527365.1:p.Leu106Pro | |
| XM_011529064.2:c.317T>C | XP_011527366.1:p.Leu106Pro | |
| XM_011529065.2:c.317T>C | XP_011527367.1:p.Leu106Pro | |
| XM_017028087.2:c.254T>C | XP_016883576.1:p.Leu85Pro | |
| XR_936641.2:n.440T>C | ||
| NM_030777.4:c.254T>C MANE Select | NP_110404.1:p.Leu85Pro |