Linked Data
ClinVar Variation Id:
294391
dbSNP Id:
rs139640415
ExAC:
1:19212007 G / A
gnomAD v2:
1-19212007-G-A
gnomAD v3:
1-18885513-G-A
gnomAD v4:
1-18885513-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.18885513G>A , CM000663.2:g.18885513G>A | GRCh38 |
| NC_000001.10:g.19212007G>A , CM000663.1:g.19212007G>A | GRCh37 |
| NC_000001.9:g.19084594G>A | NCBI36 |
| NG_012283.1:g.22287C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375341.8:c.413C>T MANE Select | ENSP00000364490.3:p.Pro138Leu | |
| ENST00000290597.9:c.413C>T | ENSP00000290597.5:p.Pro138Leu | |
| ENST00000375341.7:c.413C>T | ENSP00000364490.3:p.Pro138Leu | |
| ENST00000432718.1:c.365C>T | ENSP00000393209.1:p.Pro122Leu | |
| ENST00000454547.1:n.107C>T | ||
| ENST00000494072.3:c.1350C>T | ||
| ENST00000538309.5:c.233C>T | ENSP00000442988.1:p.Pro78Leu | |
| ENST00000538839.5:c.413C>T | ENSP00000446071.1:p.Pro138Leu | |
| NM_001161504.1:c.233C>T | NP_001154976.1:p.Pro78Leu | |
| NM_003748.3:c.413C>T | NP_003739.2:p.Pro138Leu | |
| NM_170726.2:c.413C>T | NP_733844.1:p.Pro138Leu | |
| XM_011542352.1:c.413C>T | XP_011540654.1:p.Pro138Leu | |
| XM_011542353.1:c.413C>T | XP_011540655.1:p.Pro138Leu | |
| XR_946786.1:n.470C>T | ||
| NM_001319218.1:c.413C>T | NP_001306147.1:p.Pro138Leu | |
| XR_001737510.1:n.470C>T | ||
| NM_003748.4:c.413C>T MANE Select | NP_003739.2:p.Pro138Leu | |
| NM_170726.3:c.413C>T | NP_733844.1:p.Pro138Leu | |
| NM_001161504.2:c.233C>T | NP_001154976.1:p.Pro78Leu | |
| NM_001319218.2:c.413C>T | NP_001306147.1:p.Pro138Leu |