Linked Data
ClinVar Variation Id:
158272
dbSNP Id:
rs1048042
ExAC:
15:49030464 T / C
gnomAD v2:
15-49030464-T-C
gnomAD v3:
15-48738267-T-C
gnomAD v4:
15-48738267-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48738267T>C , CM000677.2:g.48738267T>C | GRCh38 |
| NC_000015.9:g.49030464T>C , CM000677.1:g.49030464T>C | GRCh37 |
| NC_000015.8:g.46817756T>C | NCBI36 |
| NG_027518.1:g.77880A>G | |
| NG_027518.2:g.77880A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000380950.7:c.5115A>G MANE Select | ENSP00000370337.2:p.Pro1705= | |
| ENST00000380950.6:c.5115A>G | ENSP00000370337.2:p.Pro1705= | |
| ENST00000399334.7:c.4947A>G | ENSP00000382271.3:p.Pro1649= | |
| ENST00000561245.1:c.142+3364A>G | ENSP00000453591.1:n.142+3364A>G | |
| NM_001194998.1:c.5115A>G | NP_001181927.1:p.Pro1705= | |
| NM_014985.3:c.4947A>G | NP_055800.2:p.Pro1649= | |
| XM_006720437.2:c.5115A>G | XP_006720500.1:p.Pro1705= | |
| XM_011521373.1:c.5085A>G | XP_011519675.1:p.Pro1695= | |
| XM_011521374.1:c.4093+3334A>G | XP_011519676.1:n.4093+3334A>G | |
| XM_011521375.1:c.4064-1046A>G | XP_011519677.1:n.4064-1046A>G | |
| XM_011521376.1:c.4063+3364A>G | XP_011519678.1:n.4063+3364A>G | |
| XM_011521378.1:c.4063+3364A>G | XP_011519680.1:n.4063+3364A>G | |
| XM_011521380.1:c.3156A>G | XP_011519682.1:p.Pro1052= | |
| XM_011521381.1:c.3150A>G | XP_011519683.1:p.Pro1050= | |
| XR_931769.1:n.5029-1046A>G | ||
| XR_931770.1:n.5058+3334A>G | ||
| XR_931771.1:n.5058+3334A>G | ||
| XR_931772.1:n.5058+3334A>G | ||
| XR_931773.1:n.5058+3334A>G | ||
| XR_931774.1:n.5058+3334A>G | ||
| XR_931775.1:n.5028+3364A>G | ||
| XM_006720437.3:c.5115A>G | XP_006720500.1:p.Pro1705= | |
| XM_011521373.3:c.5085A>G | XP_011519675.1:p.Pro1695= | |
| XM_011521374.3:c.4093+3334A>G | XP_011519676.1:n.4093+3334A>G | |
| XM_011521375.3:c.4064-1046A>G | XP_011519677.1:n.4064-1046A>G | |
| XM_011521378.3:c.4063+3364A>G | XP_011519680.1:n.4063+3364A>G | |
| XM_011521381.2:c.3150A>G | XP_011519683.1:p.Pro1050= | |
| XM_017022015.1:c.3150A>G | XP_016877504.1:p.Pro1050= | |
| XM_024449875.1:c.4917A>G | XP_024305643.1:p.Pro1639= | |
| XR_001751153.2:n.5014+3364A>G | ||
| XR_931769.3:n.5015-1046A>G | ||
| XR_931770.3:n.5044+3334A>G | ||
| XR_931775.3:n.5014+3364A>G | ||
| NM_001194998.2:c.5115A>G MANE Select | NP_001181927.1:p.Pro1705= | |
| NM_014985.4:c.4947A>G | NP_055800.2:p.Pro1649= |