Linked Data
ClinVar Variation Id:
402206
dbSNP Id:
rs754025360
ExAC:
11:125831855 G / A
gnomAD v2:
11-125831855-G-A
gnomAD v3:
11-125961960-G-A
gnomAD v4:
11-125961960-G-A
PubMed:
PMID:26539891
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.125961960G>A , CM000673.2:g.125961960G>A | GRCh38 |
| NC_000011.9:g.125831855G>A , CM000673.1:g.125831855G>A | GRCh37 |
| NC_000011.8:g.125337065G>A | NCBI36 |
| NG_029776.1:g.106333C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683597.1:n.1018C>T | ||
| ENST00000683716.1:c.*1119C>T | ENSP00000506883.1:n.*1119C>T | |
| ENST00000683981.1:n.1470C>T | ||
| ENST00000684078.1:c.3395C>T | ENSP00000507318.1:p.Pro1132Leu | |
| ENST00000531738.6:c.3395C>T MANE Select | ENSP00000432901.2:p.Pro1132Leu | |
| ENST00000680589.1:n.1913C>T | ||
| ENST00000263577.11:c.3395C>T | ENSP00000263577.7:p.Pro1132Leu | |
| ENST00000392693.7:c.3395C>T | ENSP00000376458.3:p.Pro1132Leu | |
| ENST00000531738.5:c.1526C>T | ENSP00000432901.1:p.Pro509Leu | |
| NM_001243597.1:c.3395C>T | NP_001230526.1:p.Pro1132Leu | |
| NM_016952.4:c.3395C>T | NP_058648.4:p.Pro1132Leu | |
| XM_011542862.1:c.3395C>T | XP_011541164.1:p.Pro1132Leu | |
| XM_011542863.1:c.3395C>T | XP_011541165.1:p.Pro1132Leu | |
| XM_011542864.1:c.3395C>T | XP_011541166.1:p.Pro1132Leu | |
| XM_011542865.1:c.3395C>T | XP_011541167.1:p.Pro1132Leu | |
| XM_011542866.1:c.3395C>T | XP_011541168.1:p.Pro1132Leu | |
| XM_011542862.3:c.3395C>T | XP_011541164.1:p.Pro1132Leu | |
| XM_011542863.2:c.3395C>T | XP_011541165.1:p.Pro1132Leu | |
| XM_011542864.2:c.3395C>T | XP_011541166.1:p.Pro1132Leu | |
| XM_011542865.2:c.3395C>T | XP_011541167.1:p.Pro1132Leu | |
| XM_011542866.3:c.3395C>T | XP_011541168.1:p.Pro1132Leu | |
| XM_017017873.1:c.3395C>T | XP_016873362.1:p.Pro1132Leu | |
| XR_001747899.2:n.3713C>T | ||
| NM_001243597.2:c.3395C>T | NP_001230526.1:p.Pro1132Leu | |
| NM_001378964.1:c.3395C>T MANE Select | NP_001365893.1:p.Pro1132Leu | |
| NM_016952.5:c.3395C>T | NP_058648.4:p.Pro1132Leu |