Linked Data
dbSNP Id:
rs746374169
ExAC:
19:36497507 G / T
gnomAD v2:
19-36497507-G-T
gnomAD v4:
19-36006605-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.36006605G>T , CM000681.2:g.36006605G>T | GRCh38 |
| NC_000019.9:g.36497507G>T , CM000681.1:g.36497507G>T | GRCh37 |
| NC_000019.8:g.41189347G>T | NCBI36 |
| NG_042831.1:g.7189C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000324444.9:c.685C>A MANE Select | ENSP00000316130.3:p.Pro229Thr | |
| ENST00000397428.8:c.67-1168C>A | ||
| ENST00000465425.2:n.797C>A | ||
| ENST00000324444.7:c.685C>A | ENSP00000316130.3:p.Pro229Thr | |
| ENST00000340477.9:c.346C>A | ENSP00000343152.5:p.Pro116Thr | |
| ENST00000397428.7:c.40-1168C>A | ENSP00000380572.3:n.40-1168C>A | |
| ENST00000465425.1:n.797C>A | ||
| ENST00000490730.1:c.685C>A | ENSP00000422716.1:p.Pro229Thr | |
| ENST00000503121.5:c.242+1612C>A | ||
| ENST00000505054.2:n.395-1168C>A | ||
| NM_001039876.1:c.685C>A | NP_001034965.1:p.Pro229Thr | |
| NM_001039876.2:c.685C>A | NP_001034965.1:p.Pro229Thr | |
| NM_001297735.1:c.346C>A | NP_001284664.1:p.Pro116Thr | |
| NM_001297735.2:c.346C>A | NP_001284664.1:p.Pro116Thr | |
| XM_005258598.2:c.685C>A | XP_005258655.1:p.Pro229Thr | |
| XM_005258601.2:c.618+145C>A | XP_005258658.1:n.618+145C>A | |
| XM_005258604.3:c.685C>A | XP_005258661.1:p.Pro229Thr | |
| NM_001039876.3:c.685C>A MANE Select | NP_001034965.1:p.Pro229Thr | |
| NM_001297735.3:c.346C>A | NP_001284664.1:p.Pro116Thr |