Linked Data
ClinVar Variation Id:
259212
dbSNP Id:
rs11858480
ExAC:
15:77325279 C / T
gnomAD v2:
15-77325279-C-T
gnomAD v3:
15-77032938-C-T
gnomAD v4:
15-77032938-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.77032938C>T , CM000677.2:g.77032938C>T | GRCh38 |
| NC_000015.9:g.77325279C>T , CM000677.1:g.77325279C>T | GRCh37 |
| NC_000015.8:g.75112334C>T | NCBI36 |
| NG_007526.1:g.42815C>T , LRG_172:g.42815C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000697622.1:n.2081C>T | ||
| ENST00000697623.1:n.2334C>T | ||
| ENST00000558012.6:c.915C>T MANE Select | ENSP00000452746.1:p.Cys305= | |
| ENST00000379595.7:c.915C>T | ENSP00000368914.3:p.Cys305= | |
| ENST00000557995.1:n.579C>T | ||
| ENST00000558012.5:c.915C>T | ENSP00000452746.1:p.Cys305= | |
| ENST00000558870.1:c.78+544C>T | ||
| ENST00000559295.5:c.872+510C>T | ENSP00000452743.1:n.872+510C>T | |
| ENST00000559785.5:c.1144C>T | ENSP00000452986.1:p.Arg382Trp | |
| ENST00000560223.5:c.*1017C>T | ENSP00000454118.1:n.*1017C>T | |
| NM_003978.3:c.915C>T , LRG_172t1:c.915C>T | NP_003969.2:p.Cys305= | |
| XM_006720737.2:c.549C>T | XP_006720800.1:p.Cys183= | |
| XM_011522163.1:c.972C>T | XP_011520465.1:p.Cys324= | |
| XM_011522164.1:c.870C>T | XP_011520466.1:p.Cys290= | |
| XM_011522165.1:c.768C>T | XP_011520467.1:p.Cys256= | |
| XM_011522166.1:c.1006C>T | XP_011520468.1:p.Arg336Trp | |
| XM_011522167.1:c.895+544C>T | XP_011520469.1:n.895+544C>T | |
| XM_011522168.1:c.972C>T | XP_011520470.1:p.Cys324= | |
| XM_011522169.1:c.798+1660C>T | XP_011520471.1:n.798+1660C>T | |
| XM_011522170.1:c.372-2570C>T | XP_011520472.1:n.372-2570C>T | |
| XM_011522171.1:c.312-2570C>T | XP_011520473.1:n.312-2570C>T | |
| XM_011522172.1:c.312-2570C>T | XP_011520474.1:n.312-2570C>T | |
| XM_011522173.1:c.312-2570C>T | XP_011520475.1:n.312-2570C>T | |
| XR_931936.1:n.1456C>T | ||
| XR_931937.1:n.1399C>T | ||
| XR_931938.1:n.1345+544C>T | ||
| XR_931939.1:n.1248+1660C>T | ||
| XR_931940.1:n.1070-2570C>T | ||
| NM_001321135.1:c.872+510C>T | NP_001308064.1:n.872+510C>T | |
| NM_001321136.1:c.888C>T | NP_001308065.1:p.Cys296= | |
| NM_001321137.1:c.1110C>T | NP_001308066.1:p.Cys370= | |
| NM_003978.4:c.915C>T | NP_003969.2:p.Cys305= | |
| NR_135552.1:n.1150+1660C>T | ||
| XM_006720737.3:c.549C>T | XP_006720800.1:p.Cys183= | |
| XM_011522163.2:c.972C>T | XP_011520465.1:p.Cys324= | |
| XM_011522165.2:c.768C>T | XP_011520467.1:p.Cys256= | |
| XM_011522166.2:c.1006C>T | XP_011520468.1:p.Arg336Trp | |
| XM_011522167.2:c.895+544C>T | XP_011520469.1:n.895+544C>T | |
| XM_011522168.3:c.972C>T | XP_011520470.1:p.Cys324= | |
| XM_011522169.2:c.798+1660C>T | XP_011520471.1:n.798+1660C>T | |
| XR_931936.2:n.1454C>T | ||
| XR_931937.2:n.1397C>T | ||
| XR_931938.2:n.1343+544C>T | ||
| XR_931939.2:n.1246+1660C>T | ||
| NM_001321135.2:c.872+510C>T | NP_001308064.1:n.872+510C>T | |
| NM_001321136.2:c.888C>T | NP_001308065.1:p.Cys296= | |
| NM_003978.5:c.915C>T MANE Select | NP_003969.2:p.Cys305= | |
| NR_135552.2:n.1109+1660C>T |