Linked Data
ClinVar Variation Id:
30810
ClinVar RCV Id:
RCV000023795
dbSNP Id:
rs199469705
gnomAD v4:
19-14564841-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.14564841C>T , CM000681.2:g.14564841C>T | GRCh38 |
| NC_000019.9:g.14675653C>T , CM000681.1:g.14675653C>T | GRCh37 |
| NC_000019.8:g.14536653C>T | NCBI36 |
| NG_028336.1:g.40275C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000215567.10:c.545C>T MANE Select | ENSP00000215567.4:p.Pro182Leu | |
| ENST00000596073.6:c.659C>T | ENSP00000472697.2:p.Pro220Leu | |
| ENST00000642961.1:n.682C>T | ||
| ENST00000215567.9:c.545C>T | ENSP00000215567.4:p.Pro182Leu | |
| ENST00000593637.5:n.716C>T | ||
| ENST00000593775.5:n.144C>T | ||
| ENST00000594545.5:c.80C>T | ENSP00000469343.1:p.Pro27Leu | |
| ENST00000596073.5:c.80C>T | ENSP00000472697.1:p.Pro27Leu | |
| ENST00000596953.5:n.601C>T | ||
| ENST00000597607.5:n.585C>T | ||
| ENST00000598298.5:c.80C>T | ENSP00000471341.1:p.Pro27Leu | |
| ENST00000598333.5:c.*192C>T | ENSP00000473129.1:n.*192C>T | |
| ENST00000598987.5:c.*432C>T | ENSP00000472504.1:n.*432C>T | |
| ENST00000599101.5:n.148C>T | ||
| ENST00000600083.5:c.80C>T | ENSP00000472114.1:p.Pro27Leu | |
| ENST00000600395.5:n.286C>T | ||
| ENST00000601187.1:c.115C>T | ENSP00000472957.1:p.Leu39Phe | |
| ENST00000601350.5:n.92C>T | ||
| ENST00000601461.1:n.629C>T | ||
| NM_138501.5:c.545C>T | NP_612510.1:p.Pro182Leu | |
| NR_038103.1:n.707C>T | ||
| NR_038104.1:n.740C>T | ||
| XM_006722945.1:c.644C>T | XP_006723008.1:p.Pro215Leu | |
| XM_006722947.1:c.590C>T | XP_006723010.1:p.Pro197Leu | |
| XM_011528442.1:c.608C>T | XP_011526744.1:p.Pro203Leu | |
| NM_001321170.1:c.590C>T | NP_001308099.1:p.Pro197Leu | |
| XM_006722945.2:c.644C>T | XP_006723008.1:p.Pro215Leu | |
| XM_011528442.2:c.608C>T | XP_011526744.1:p.Pro203Leu | |
| XM_024451790.1:c.644C>T | XP_024307558.1:p.Pro215Leu | |
| XM_024451791.1:c.644C>T | XP_024307559.1:p.Pro215Leu | |
| XM_024451792.1:c.608C>T | XP_024307560.1:p.Pro203Leu | |
| XM_024451793.1:c.608C>T | XP_024307561.1:p.Pro203Leu | |
| XM_024451794.1:c.590C>T | XP_024307562.1:p.Pro197Leu | |
| XM_024451795.1:c.590C>T | XP_024307563.1:p.Pro197Leu | |
| XM_024451796.1:c.545C>T | XP_024307564.1:p.Pro182Leu | |
| XM_024451797.1:c.545C>T | XP_024307565.1:p.Pro182Leu | |
| XM_024451798.1:c.80C>T | XP_024307566.1:p.Pro27Leu | |
| XM_024451799.1:c.80C>T | XP_024307567.1:p.Pro27Leu | |
| XM_024451800.1:c.80C>T | XP_024307568.1:p.Pro27Leu | |
| NM_138501.6:c.545C>T MANE Select | NP_612510.1:p.Pro182Leu |