Linked Data
dbSNP Id:
rs769843379
ExAC:
1:19404496 C / T
gnomAD v2:
1-19404496-C-T
gnomAD v3:
1-19078002-C-T
gnomAD v4:
1-19078002-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.19078002C>T , CM000663.2:g.19078002C>T | GRCh38 |
| NC_000001.10:g.19404496C>T , CM000663.1:g.19404496C>T | GRCh37 |
| NC_000001.9:g.19277083C>T | NCBI36 |
| NG_027669.1:g.137251G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375254.8:c.15298G>A MANE Select | ENSP00000364403.3:p.Val5100Ile | |
| ENST00000375224.1:c.2419G>A | ENSP00000364372.1:p.Val807Ile | |
| ENST00000375225.7:c.523G>A | ENSP00000364373.3:p.Val175Ile | |
| ENST00000375254.7:c.15298G>A | ENSP00000364403.3:p.Val5100Ile | |
| ENST00000459947.5:n.3305G>A | ||
| NM_020765.2:c.15298G>A | NP_065816.2:p.Val5100Ile | |
| XM_011541108.1:c.15451G>A | XP_011539410.1:p.Val5151Ile | |
| XM_011541109.1:c.15448G>A | XP_011539411.1:p.Val5150Ile | |
| XM_011541110.1:c.15448G>A | XP_011539412.1:p.Val5150Ile | |
| XM_011541111.1:c.15448G>A | XP_011539413.1:p.Val5150Ile | |
| XM_011541112.1:c.15436G>A | XP_011539414.1:p.Val5146Ile | |
| XM_011541113.1:c.15433G>A | XP_011539415.1:p.Val5145Ile | |
| XM_011541114.1:c.15433G>A | XP_011539416.1:p.Val5145Ile | |
| XM_011541115.1:c.15427G>A | XP_011539417.1:p.Val5143Ile | |
| XM_011541116.1:c.15418G>A | XP_011539418.1:p.Val5140Ile | |
| XM_011541117.1:c.15367G>A | XP_011539419.1:p.Val5123Ile | |
| XM_011541118.1:c.15364G>A | XP_011539420.1:p.Val5122Ile | |
| XM_011541119.1:c.15331G>A | XP_011539421.1:p.Val5111Ile | |
| XM_011541120.1:c.15328G>A | XP_011539422.1:p.Val5110Ile | |
| XM_011541121.1:c.15295G>A | XP_011539423.1:p.Val5099Ile | |
| XM_011541108.3:c.15565G>A | XP_011539410.2:p.Val5189Ile | |
| XM_011541109.3:c.15562G>A | XP_011539411.2:p.Val5188Ile | |
| XM_011541110.3:c.15562G>A | XP_011539412.2:p.Val5188Ile | |
| XM_011541111.3:c.15562G>A | XP_011539413.2:p.Val5188Ile | |
| XM_011541112.3:c.15550G>A | XP_011539414.2:p.Val5184Ile | |
| XM_011541113.3:c.15547G>A | XP_011539415.2:p.Val5183Ile | |
| XM_011541114.3:c.15547G>A | XP_011539416.2:p.Val5183Ile | |
| XM_011541115.3:c.15541G>A | XP_011539417.2:p.Val5181Ile | |
| XM_011541116.3:c.15532G>A | XP_011539418.2:p.Val5178Ile | |
| XM_011541117.3:c.15481G>A | XP_011539419.2:p.Val5161Ile | |
| XM_011541118.3:c.15478G>A | XP_011539420.2:p.Val5160Ile | |
| XM_011541119.3:c.15445G>A | XP_011539421.2:p.Val5149Ile | |
| XM_011541120.3:c.15442G>A | XP_011539422.2:p.Val5148Ile | |
| XM_011541121.3:c.15409G>A | XP_011539423.2:p.Val5137Ile | |
| XM_017000822.2:c.15544G>A | XP_016856311.2:p.Val5182Ile | |
| XM_017000823.2:c.15517G>A | XP_016856312.2:p.Val5173Ile | |
| XM_017000824.2:c.15463G>A | XP_016856313.2:p.Val5155Ile | |
| XM_017000825.2:c.15448G>A | XP_016856314.2:p.Val5150Ile | |
| XM_017000826.2:c.15445G>A | XP_016856315.2:p.Val5149Ile | |
| XM_017000827.2:c.15430G>A | XP_016856316.2:p.Val5144Ile | |
| XM_017000828.2:c.15406G>A | XP_016856317.2:p.Val5136Ile | |
| XM_017000829.2:c.15358G>A | XP_016856318.2:p.Val5120Ile | |
| XM_017000830.2:c.15307G>A | XP_016856319.2:p.Val5103Ile | |
| NM_020765.3:c.15298G>A MANE Select | NP_065816.2:p.Val5100Ile |