Linked Data
ClinVar Variation Id:
2321596
ClinVar RCV Id:
RCV002915714
dbSNP Id:
rs1432417876
gnomAD v2:
17-19575097-C-T
gnomAD v3:
17-19671784-C-T
gnomAD v4:
17-19671784-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.19671784C>T , CM000679.2:g.19671784C>T | GRCh38 |
| NC_000017.10:g.19575097C>T , CM000679.1:g.19575097C>T | GRCh37 |
| NC_000017.9:g.19515689C>T | NCBI36 |
| NG_007095.2:g.28034C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000176643.11:c.1271C>T MANE Select | ENSP00000176643.6:p.Pro424Leu | |
| ENST00000395575.7:c.944C>T | ENSP00000378942.3:p.Pro315Leu | |
| ENST00000472059.6:c.*829C>T | ENSP00000458397.1:n.*829C>T | |
| ENST00000571163.2:c.227-3712C>T | ENSP00000459977.2:n.227-3712C>T | |
| ENST00000573947.2:c.71C>T | ENSP00000462933.2:p.Pro24Leu | |
| ENST00000574078.3:n.600C>T | ||
| ENST00000581518.6:c.1271C>T | ENSP00000461916.2:p.Pro424Leu | |
| ENST00000582991.6:c.1171C>T | ENSP00000464153.1:p.Pro391Ser | |
| ENST00000671878.1:c.1271C>T | ENSP00000500516.1:p.Pro424Leu | |
| ENST00000672059.1:n.1622C>T | ||
| ENST00000672357.1:c.1271C>T | ENSP00000500092.1:p.Pro424Leu | |
| ENST00000672465.1:c.1271C>T | ENSP00000500517.1:p.Pro424Leu | |
| ENST00000672487.1:c.*451C>T | ENSP00000500740.1:n.*451C>T | |
| ENST00000672564.1:n.2940C>T | ||
| ENST00000672567.1:c.1098+6737C>T | ||
| ENST00000672591.1:c.331C>T | ||
| ENST00000672608.1:n.2260C>T | ||
| ENST00000672709.1:c.1125C>T | ||
| ENST00000673064.1:n.1771C>T | ||
| ENST00000673136.1:c.1208-3712C>T | ENSP00000500380.1:n.1208-3712C>T | |
| ENST00000673472.1:n.1607C>T | ||
| ENST00000673516.1:n.1731C>T | ||
| ENST00000176643.10:c.1271C>T | ENSP00000176643.6:p.Pro424Leu | |
| ENST00000339618.8:c.1271C>T | ENSP00000345774.4:p.Pro424Leu | |
| ENST00000395575.6:c.1271C>T | ENSP00000378942.2:p.Pro424Leu | |
| ENST00000472059.5:c.*829C>T | ENSP00000458397.1:n.*829C>T | |
| ENST00000476965.5:n.1021C>T | ||
| ENST00000571163.1:c.227-3774C>T | ENSP00000459977.1:n.227-3774C>T | |
| ENST00000573947.1:c.178C>T | ENSP00000462933.1:p.Pro60Ser | |
| ENST00000575384.2:c.17C>T | ENSP00000461235.2:p.Pro6Leu | |
| ENST00000579855.5:c.1271C>T | ENSP00000463637.1:p.Pro424Leu | |
| ENST00000581518.5:c.1271C>T | ENSP00000461916.1:p.Pro424Leu | |
| ENST00000582991.5:c.1171C>T | ENSP00000464153.1:p.Pro391Ser | |
| ENST00000630662.2:c.227-3774C>T | ENSP00000487353.1:n.227-3774C>T | |
| ENST00000631291.2:c.1171C>T | ENSP00000486085.1:p.Pro391Ser | |
| NM_000382.2:c.1271C>T | NP_000373.1:p.Pro424Leu | |
| NM_001031806.1:c.1271C>T | NP_001026976.1:p.Pro424Leu | |
| XM_011523732.1:c.1271C>T | XP_011522034.1:p.Pro424Leu | |
| XM_011523733.1:c.1271C>T | XP_011522035.1:p.Pro424Leu | |
| XM_011523733.2:c.1271C>T | XP_011522035.1:p.Pro424Leu | |
| XM_017024355.1:c.1208-3774C>T | XP_016879844.1:n.1208-3774C>T | |
| XM_017024356.2:c.1271C>T | XP_016879845.1:p.Pro424Leu | |
| XM_017024357.1:c.1271C>T | XP_016879846.1:p.Pro424Leu | |
| XM_017024358.2:c.1208-3774C>T | XP_016879847.1:n.1208-3774C>T | |
| XM_024450651.1:c.692C>T | XP_024306419.1:p.Pro231Leu | |
| XM_024450652.1:c.692C>T | XP_024306420.1:p.Pro231Leu | |
| NM_000382.3:c.1271C>T MANE Select | NP_000373.1:p.Pro424Leu | |
| NM_001031806.2:c.1271C>T | NP_001026976.1:p.Pro424Leu | |
| NM_001369136.1:c.1271C>T | NP_001356065.1:p.Pro424Leu | |
| NM_001369137.1:c.1271C>T | NP_001356066.1:p.Pro424Leu | |
| NM_001369138.1:c.1271C>T | NP_001356067.1:p.Pro424Leu | |
| NM_001369139.1:c.1271C>T | NP_001356068.1:p.Pro424Leu | |
| NM_001369146.1:c.1208-3774C>T | NP_001356075.1:n.1208-3774C>T | |
| NM_001369148.1:c.692C>T | NP_001356077.1:p.Pro231Leu | |
| NM_001369137.2:c.1271C>T | NP_001356066.1:p.Pro424Leu | |
| NM_001369138.2:c.1271C>T | NP_001356067.1:p.Pro424Leu | |
| NM_001369146.2:c.1208-3774C>T | NP_001356075.1:n.1208-3774C>T | |
| NM_001369148.2:c.692C>T | NP_001356077.1:p.Pro231Leu |