Linked Data
ClinVar Variation Id:
403790
dbSNP Id:
rs766958608
gnomAD v2:
19-1223007-C-T
gnomAD v3:
19-1223008-C-T
gnomAD v4:
19-1223008-C-T
PubMed:
PMID:12372054
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.1223008C>T , CM000681.2:g.1223008C>T | GRCh38 |
| NC_000019.9:g.1223007C>T , CM000681.1:g.1223007C>T | GRCh37 |
| NC_000019.8:g.1174007C>T | NCBI36 |
| NG_007460.2:g.38602C>T , LRG_319:g.38602C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000585465.3:c.944C>T | ENSP00000490268.2:p.Pro315Leu | |
| ENST00000585748.3:c.572C>T | ENSP00000477641.2:p.Pro191Leu | |
| ENST00000585851.2:c.770C>T | ENSP00000467912.2:p.Pro257Leu | |
| ENST00000326873.12:c.944C>T MANE Select | ENSP00000324856.6:p.Pro315Leu | |
| ENST00000652231.1:c.944C>T | ENSP00000498804.1:p.Pro315Leu | |
| ENST00000326873.11:c.944C>T | ENSP00000324856.6:p.Pro315Leu | |
| ENST00000586243.5:c.944C>T | ENSP00000467240.2:p.Pro315Leu | |
| ENST00000589152.5:n.1642C>T | ||
| ENST00000591133.2:n.915C>T | ||
| NM_000455.4:c.944C>T , LRG_319t1:c.944C>T | NP_000446.1:p.Pro315Leu | |
| XM_005259617.1:c.944C>T | XP_005259674.1:p.Pro315Leu | |
| XM_005259618.3:c.944C>T | XP_005259675.1:p.Pro315Leu | |
| XM_011528209.1:c.722C>T | XP_011526511.1:p.Pro241Leu | |
| XR_936204.1:n.1720C>T | ||
| XM_005259617.3:c.944C>T | XP_005259674.1:p.Pro315Leu | |
| XM_011528209.2:c.722C>T | XP_011526511.1:p.Pro241Leu | |
| XR_001753738.2:n.1750C>T | ||
| XR_001753739.1:n.1750C>T | ||
| XR_001753740.2:n.1720C>T | ||
| NM_000455.5:c.944C>T MANE Select | NP_000446.1:p.Pro315Leu |