Linked Data
ClinVar Variation Id:
970285
ClinVar RCV Id:
RCV001245833
dbSNP Id:
rs375155007
ExAC:
15:77324654 C / T
gnomAD v2:
15-77324654-C-T
gnomAD v3:
15-77032313-C-T
gnomAD v4:
15-77032313-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.77032313C>T , CM000677.2:g.77032313C>T | GRCh38 |
| NC_000015.9:g.77324654C>T , CM000677.1:g.77324654C>T | GRCh37 |
| NC_000015.8:g.75111709C>T | NCBI36 |
| NG_007526.1:g.42190C>T , LRG_172:g.42190C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000697622.1:n.1456C>T | ||
| ENST00000697623.1:n.2176C>T | ||
| ENST00000558012.6:c.757C>T MANE Select | ENSP00000452746.1:p.Arg253Trp | |
| ENST00000379595.7:c.757C>T | ENSP00000368914.3:p.Arg253Trp | |
| ENST00000557995.1:n.421C>T | ||
| ENST00000558012.5:c.757C>T | ENSP00000452746.1:p.Arg253Trp | |
| ENST00000559295.5:c.757C>T | ENSP00000452743.1:p.Arg253Trp | |
| ENST00000559785.5:c.952C>T | ENSP00000452986.1:p.Arg318Trp | |
| ENST00000559856.1:c.676C>T | ENSP00000453382.1:p.Arg226Trp | |
| ENST00000560223.5:c.*859C>T | ENSP00000454118.1:n.*859C>T | |
| ENST00000560377.5:n.998C>T | ||
| NM_003978.3:c.757C>T , LRG_172t1:c.757C>T | NP_003969.2:p.Arg253Trp | |
| XM_006720737.2:c.391C>T | XP_006720800.1:p.Arg131Trp | |
| XM_011522163.1:c.814C>T | XP_011520465.1:p.Arg272Trp | |
| XM_011522164.1:c.712C>T | XP_011520466.1:p.Arg238Trp | |
| XM_011522165.1:c.610C>T | XP_011520467.1:p.Arg204Trp | |
| XM_011522166.1:c.814C>T | XP_011520468.1:p.Arg272Trp | |
| XM_011522167.1:c.814C>T | XP_011520469.1:p.Arg272Trp | |
| XM_011522168.1:c.814C>T | XP_011520470.1:p.Arg272Trp | |
| XM_011522169.1:c.798+1035C>T | XP_011520471.1:n.798+1035C>T | |
| XM_011522170.1:c.371+2739C>T | XP_011520472.1:n.371+2739C>T | |
| XM_011522171.1:c.311+2739C>T | XP_011520473.1:n.311+2739C>T | |
| XM_011522172.1:c.311+2739C>T | XP_011520474.1:n.311+2739C>T | |
| XM_011522173.1:c.311+2739C>T | XP_011520475.1:n.311+2739C>T | |
| XR_931936.1:n.1264C>T | ||
| XR_931937.1:n.1207C>T | ||
| XR_931938.1:n.1264C>T | ||
| XR_931939.1:n.1248+1035C>T | ||
| XR_931940.1:n.1069+2739C>T | ||
| NM_001321135.1:c.757C>T | NP_001308064.1:p.Arg253Trp | |
| NM_001321136.1:c.730C>T | NP_001308065.1:p.Arg244Trp | |
| NM_001321137.1:c.952C>T | NP_001308066.1:p.Arg318Trp | |
| NM_003978.4:c.757C>T | NP_003969.2:p.Arg253Trp | |
| NR_135552.1:n.1150+1035C>T | ||
| XM_006720737.3:c.391C>T | XP_006720800.1:p.Arg131Trp | |
| XM_011522163.2:c.814C>T | XP_011520465.1:p.Arg272Trp | |
| XM_011522165.2:c.610C>T | XP_011520467.1:p.Arg204Trp | |
| XM_011522166.2:c.814C>T | XP_011520468.1:p.Arg272Trp | |
| XM_011522167.2:c.814C>T | XP_011520469.1:p.Arg272Trp | |
| XM_011522168.3:c.814C>T | XP_011520470.1:p.Arg272Trp | |
| XM_011522169.2:c.798+1035C>T | XP_011520471.1:n.798+1035C>T | |
| XR_931936.2:n.1262C>T | ||
| XR_931937.2:n.1205C>T | ||
| XR_931938.2:n.1262C>T | ||
| XR_931939.2:n.1246+1035C>T | ||
| NM_001321135.2:c.757C>T | NP_001308064.1:p.Arg253Trp | |
| NM_001321136.2:c.730C>T | NP_001308065.1:p.Arg244Trp | |
| NM_003978.5:c.757C>T MANE Select | NP_003969.2:p.Arg253Trp | |
| NR_135552.2:n.1109+1035C>T |