Linked Data
ClinVar Variation Id:
317180
ClinVar RCV Id:
RCV000361931
dbSNP Id:
rs368528834
ExAC:
15:77324692 C / T
gnomAD v2:
15-77324692-C-T
gnomAD v3:
15-77032351-C-T
gnomAD v4:
15-77032351-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.77032351C>T , CM000677.2:g.77032351C>T | GRCh38 |
| NC_000015.9:g.77324692C>T , CM000677.1:g.77324692C>T | GRCh37 |
| NC_000015.8:g.75111747C>T | NCBI36 |
| NG_007526.1:g.42228C>T , LRG_172:g.42228C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000697622.1:n.1494C>T | ||
| ENST00000697623.1:n.2214C>T | ||
| ENST00000558012.6:c.795C>T MANE Select | ENSP00000452746.1:p.Ile265= | |
| ENST00000379595.7:c.795C>T | ENSP00000368914.3:p.Ile265= | |
| ENST00000557995.1:n.459C>T | ||
| ENST00000558012.5:c.795C>T | ENSP00000452746.1:p.Ile265= | |
| ENST00000558870.1:c.35C>T | ||
| ENST00000559295.5:c.795C>T | ENSP00000452743.1:p.Ile265= | |
| ENST00000559785.5:c.990C>T | ENSP00000452986.1:p.Ile330= | |
| ENST00000559856.1:c.714C>T | ENSP00000453382.1:p.Ile238= | |
| ENST00000560223.5:c.*897C>T | ENSP00000454118.1:n.*897C>T | |
| ENST00000560377.5:n.1036C>T | ||
| NM_003978.3:c.795C>T , LRG_172t1:c.795C>T | NP_003969.2:p.Ile265= | |
| XM_006720737.2:c.429C>T | XP_006720800.1:p.Ile143= | |
| XM_011522163.1:c.852C>T | XP_011520465.1:p.Ile284= | |
| XM_011522164.1:c.750C>T | XP_011520466.1:p.Ile250= | |
| XM_011522165.1:c.648C>T | XP_011520467.1:p.Ile216= | |
| XM_011522166.1:c.852C>T | XP_011520468.1:p.Ile284= | |
| XM_011522167.1:c.852C>T | XP_011520469.1:p.Ile284= | |
| XM_011522168.1:c.852C>T | XP_011520470.1:p.Ile284= | |
| XM_011522169.1:c.798+1073C>T | XP_011520471.1:n.798+1073C>T | |
| XM_011522170.1:c.371+2777C>T | XP_011520472.1:n.371+2777C>T | |
| XM_011522171.1:c.311+2777C>T | XP_011520473.1:n.311+2777C>T | |
| XM_011522172.1:c.311+2777C>T | XP_011520474.1:n.311+2777C>T | |
| XM_011522173.1:c.311+2777C>T | XP_011520475.1:n.311+2777C>T | |
| XR_931936.1:n.1302C>T | ||
| XR_931937.1:n.1245C>T | ||
| XR_931938.1:n.1302C>T | ||
| XR_931939.1:n.1248+1073C>T | ||
| XR_931940.1:n.1069+2777C>T | ||
| NM_001321135.1:c.795C>T | NP_001308064.1:p.Ile265= | |
| NM_001321136.1:c.768C>T | NP_001308065.1:p.Ile256= | |
| NM_001321137.1:c.990C>T | NP_001308066.1:p.Ile330= | |
| NM_003978.4:c.795C>T | NP_003969.2:p.Ile265= | |
| NR_135552.1:n.1150+1073C>T | ||
| XM_006720737.3:c.429C>T | XP_006720800.1:p.Ile143= | |
| XM_011522163.2:c.852C>T | XP_011520465.1:p.Ile284= | |
| XM_011522165.2:c.648C>T | XP_011520467.1:p.Ile216= | |
| XM_011522166.2:c.852C>T | XP_011520468.1:p.Ile284= | |
| XM_011522167.2:c.852C>T | XP_011520469.1:p.Ile284= | |
| XM_011522168.3:c.852C>T | XP_011520470.1:p.Ile284= | |
| XM_011522169.2:c.798+1073C>T | XP_011520471.1:n.798+1073C>T | |
| XR_931936.2:n.1300C>T | ||
| XR_931937.2:n.1243C>T | ||
| XR_931938.2:n.1300C>T | ||
| XR_931939.2:n.1246+1073C>T | ||
| NM_001321135.2:c.795C>T | NP_001308064.1:p.Ile265= | |
| NM_001321136.2:c.768C>T | NP_001308065.1:p.Ile256= | |
| NM_003978.5:c.795C>T MANE Select | NP_003969.2:p.Ile265= | |
| NR_135552.2:n.1109+1073C>T |