Linked Data
ClinVar Variation Id:
764536
ClinVar RCV Id:
RCV000942888
dbSNP Id:
rs763122712
ExAC:
10:86007373 C / T
gnomAD v2:
10-86007373-C-T
gnomAD v3:
10-84247617-C-T
gnomAD v4:
10-84247617-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.84247617C>T , CM000672.2:g.84247617C>T | GRCh38 |
| NC_000010.10:g.86007373C>T , CM000672.1:g.86007373C>T | GRCh37 |
| NC_000010.9:g.85997353C>T | NCBI36 |
| NG_009106.1:g.7565C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000358110.7:c.106C>T | ENSP00000350823.5:p.Leu36= | |
| ENST00000359452.9:c.106C>T | ENSP00000352427.4:p.Leu36= | |
| ENST00000478727.6:c.*177C>T | ENSP00000498966.1:n.*177C>T | |
| ENST00000483744.6:c.106C>T | ENSP00000498992.1:p.Leu36= | |
| ENST00000650682.1:c.-432C>T | ENSP00000498223.1:n.-432C>T | |
| ENST00000650774.1:c.80-24C>T | ENSP00000498908.1:n.80-24C>T | |
| ENST00000651155.1:c.106C>T | ENSP00000499193.1:p.Leu36= | |
| ENST00000651237.1:c.-432C>T | ENSP00000498404.1:n.-432C>T | |
| ENST00000652073.1:c.-432C>T | ENSP00000498800.1:n.-432C>T | |
| ENST00000652092.2:c.106C>T MANE Select | ENSP00000498299.1:p.Leu36= | |
| ENST00000652122.1:c.106C>T | ENSP00000498917.1:p.Leu36= | |
| ENST00000652310.1:c.*58-24C>T | ENSP00000498927.1:n.*58-24C>T | |
| ENST00000358110.6:c.106C>T | ENSP00000350823.5:p.Leu36= | |
| ENST00000359452.8:c.106C>T | ENSP00000352427.4:p.Leu36= | |
| ENST00000372092.3:c.80-24C>T | ENSP00000361164.3:n.80-24C>T | |
| ENST00000469446.5:n.144C>T | ||
| ENST00000478727.5:n.144C>T | ||
| ENST00000483660.5:n.108-1305C>T | ||
| ENST00000483771.5:n.82-24C>T | ||
| NM_001012720.1:c.106C>T | NP_001012738.1:p.Leu36= | |
| NM_001012722.1:c.106C>T | NP_001012740.1:p.Leu36= | |
| NM_002921.3:c.106C>T | NP_002912.2:p.Leu36= | |
| XM_011540028.1:c.133C>T | XP_011538330.1:p.Leu45= | |
| XM_024448118.1:c.106C>T | XP_024303886.1:p.Leu36= | |
| XR_002957005.1:n.1456C>T | ||
| NM_001012720.2:c.106C>T MANE Select | NP_001012738.1:p.Leu36= | |
| NM_001012722.2:c.106C>T | NP_001012740.1:p.Leu36= | |
| NM_002921.4:c.106C>T | NP_002912.2:p.Leu36= |