Linked Data
dbSNP Id:
rs781687396
ExAC:
19:36497506 G / A
gnomAD v2:
19-36497506-G-A
gnomAD v4:
19-36006604-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.36006604G>A , CM000681.2:g.36006604G>A | GRCh38 |
| NC_000019.9:g.36497506G>A , CM000681.1:g.36497506G>A | GRCh37 |
| NC_000019.8:g.41189346G>A | NCBI36 |
| NG_042831.1:g.7190C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000324444.9:c.686C>T MANE Select | ENSP00000316130.3:p.Pro229Leu | |
| ENST00000397428.8:c.67-1167C>T | ||
| ENST00000465425.2:n.798C>T | ||
| ENST00000324444.7:c.686C>T | ENSP00000316130.3:p.Pro229Leu | |
| ENST00000340477.9:c.347C>T | ENSP00000343152.5:p.Pro116Leu | |
| ENST00000397428.7:c.40-1167C>T | ENSP00000380572.3:n.40-1167C>T | |
| ENST00000465425.1:n.798C>T | ||
| ENST00000490730.1:c.686C>T | ENSP00000422716.1:p.Pro229Leu | |
| ENST00000503121.5:c.242+1613C>T | ||
| ENST00000505054.2:n.395-1167C>T | ||
| NM_001039876.1:c.686C>T | NP_001034965.1:p.Pro229Leu | |
| NM_001039876.2:c.686C>T | NP_001034965.1:p.Pro229Leu | |
| NM_001297735.1:c.347C>T | NP_001284664.1:p.Pro116Leu | |
| NM_001297735.2:c.347C>T | NP_001284664.1:p.Pro116Leu | |
| XM_005258598.2:c.686C>T | XP_005258655.1:p.Pro229Leu | |
| XM_005258601.2:c.618+146C>T | XP_005258658.1:n.618+146C>T | |
| XM_005258604.3:c.686C>T | XP_005258661.1:p.Pro229Leu | |
| NM_001039876.3:c.686C>T MANE Select | NP_001034965.1:p.Pro229Leu | |
| NM_001297735.3:c.347C>T | NP_001284664.1:p.Pro116Leu |