Linked Data
ClinVar Variation Id:
417841
dbSNP Id:
rs189765261
ExAC:
17:78313329 C / T
gnomAD v2:
17-78313329-C-T
gnomAD v3:
17-80339529-C-T
gnomAD v4:
17-80339529-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.80339529C>T , CM000679.2:g.80339529C>T | GRCh38 |
| NC_000017.10:g.78313329C>T , CM000679.1:g.78313329C>T | GRCh37 |
| NC_000017.9:g.75927924C>T | NCBI36 |
| NG_031980.2:g.83669C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000582970.6:c.5162C>T MANE Select | ENSP00000464087.1:p.Pro1721Leu | |
| ENST00000508628.6:c.5309C>T | ENSP00000425956.2:p.Pro1770Leu | |
| ENST00000582970.5:c.5162C>T | ENSP00000464087.1:p.Pro1721Leu | |
| NM_001256071.2:c.5162C>T | NP_001243000.2:p.Pro1721Leu | |
| XM_005257545.3:c.5309C>T | XP_005257602.2:p.Pro1770Leu | |
| XM_005257546.3:c.5309C>T | XP_005257603.2:p.Pro1770Leu | |
| XM_006721995.2:c.5309C>T | XP_006722058.1:p.Pro1770Leu | |
| XM_011525084.1:c.5309C>T | XP_011523386.1:p.Pro1770Leu | |
| XM_011525085.1:c.5309C>T | XP_011523387.1:p.Pro1770Leu | |
| XM_011525086.1:c.5309C>T | XP_011523388.1:p.Pro1770Leu | |
| XM_011525087.1:c.5309C>T | XP_011523389.1:p.Pro1770Leu | |
| XR_243676.3:n.5480C>T | ||
| XM_005257545.4:c.5309C>T | XP_005257602.2:p.Pro1770Leu | |
| XM_005257546.4:c.5309C>T | XP_005257603.2:p.Pro1770Leu | |
| XM_006721995.3:c.5309C>T | XP_006722058.1:p.Pro1770Leu | |
| XM_011525084.2:c.5309C>T | XP_011523386.1:p.Pro1770Leu | |
| XM_011525086.2:c.5309C>T | XP_011523388.1:p.Pro1770Leu | |
| XM_011525087.3:c.5309C>T | XP_011523389.1:p.Pro1770Leu | |
| XM_017024905.2:c.4304C>T | XP_016880394.1:p.Pro1435Leu | |
| NM_001256071.3:c.5162C>T MANE Select | NP_001243000.2:p.Pro1721Leu |