Linked Data
dbSNP Id:
rs768044717
ExAC:
1:19404519 G / A
gnomAD v2:
1-19404519-G-A
gnomAD v3:
1-19078025-G-A
gnomAD v4:
1-19078025-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.19078025G>A , CM000663.2:g.19078025G>A | GRCh38 |
| NC_000001.10:g.19404519G>A , CM000663.1:g.19404519G>A | GRCh37 |
| NC_000001.9:g.19277106G>A | NCBI36 |
| NG_027669.1:g.137228C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375254.8:c.15275C>T MANE Select | ENSP00000364403.3:p.Ser5092Phe | |
| ENST00000375224.1:c.2396C>T | ENSP00000364372.1:p.Ser799Phe | |
| ENST00000375225.7:c.500C>T | ENSP00000364373.3:p.Ser167Phe | |
| ENST00000375254.7:c.15275C>T | ENSP00000364403.3:p.Ser5092Phe | |
| ENST00000459947.5:n.3282C>T | ||
| NM_020765.2:c.15275C>T | NP_065816.2:p.Ser5092Phe | |
| XM_011541108.1:c.15428C>T | XP_011539410.1:p.Ser5143Phe | |
| XM_011541109.1:c.15425C>T | XP_011539411.1:p.Ser5142Phe | |
| XM_011541110.1:c.15425C>T | XP_011539412.1:p.Ser5142Phe | |
| XM_011541111.1:c.15425C>T | XP_011539413.1:p.Ser5142Phe | |
| XM_011541112.1:c.15413C>T | XP_011539414.1:p.Ser5138Phe | |
| XM_011541113.1:c.15410C>T | XP_011539415.1:p.Ser5137Phe | |
| XM_011541114.1:c.15410C>T | XP_011539416.1:p.Ser5137Phe | |
| XM_011541115.1:c.15404C>T | XP_011539417.1:p.Ser5135Phe | |
| XM_011541116.1:c.15395C>T | XP_011539418.1:p.Ser5132Phe | |
| XM_011541117.1:c.15344C>T | XP_011539419.1:p.Ser5115Phe | |
| XM_011541118.1:c.15341C>T | XP_011539420.1:p.Ser5114Phe | |
| XM_011541119.1:c.15308C>T | XP_011539421.1:p.Ser5103Phe | |
| XM_011541120.1:c.15305C>T | XP_011539422.1:p.Ser5102Phe | |
| XM_011541121.1:c.15272C>T | XP_011539423.1:p.Ser5091Phe | |
| XM_011541108.3:c.15542C>T | XP_011539410.2:p.Ser5181Phe | |
| XM_011541109.3:c.15539C>T | XP_011539411.2:p.Ser5180Phe | |
| XM_011541110.3:c.15539C>T | XP_011539412.2:p.Ser5180Phe | |
| XM_011541111.3:c.15539C>T | XP_011539413.2:p.Ser5180Phe | |
| XM_011541112.3:c.15527C>T | XP_011539414.2:p.Ser5176Phe | |
| XM_011541113.3:c.15524C>T | XP_011539415.2:p.Ser5175Phe | |
| XM_011541114.3:c.15524C>T | XP_011539416.2:p.Ser5175Phe | |
| XM_011541115.3:c.15518C>T | XP_011539417.2:p.Ser5173Phe | |
| XM_011541116.3:c.15509C>T | XP_011539418.2:p.Ser5170Phe | |
| XM_011541117.3:c.15458C>T | XP_011539419.2:p.Ser5153Phe | |
| XM_011541118.3:c.15455C>T | XP_011539420.2:p.Ser5152Phe | |
| XM_011541119.3:c.15422C>T | XP_011539421.2:p.Ser5141Phe | |
| XM_011541120.3:c.15419C>T | XP_011539422.2:p.Ser5140Phe | |
| XM_011541121.3:c.15386C>T | XP_011539423.2:p.Ser5129Phe | |
| XM_017000822.2:c.15521C>T | XP_016856311.2:p.Ser5174Phe | |
| XM_017000823.2:c.15494C>T | XP_016856312.2:p.Ser5165Phe | |
| XM_017000824.2:c.15440C>T | XP_016856313.2:p.Ser5147Phe | |
| XM_017000825.2:c.15425C>T | XP_016856314.2:p.Ser5142Phe | |
| XM_017000826.2:c.15422C>T | XP_016856315.2:p.Ser5141Phe | |
| XM_017000827.2:c.15407C>T | XP_016856316.2:p.Ser5136Phe | |
| XM_017000828.2:c.15383C>T | XP_016856317.2:p.Ser5128Phe | |
| XM_017000829.2:c.15335C>T | XP_016856318.2:p.Ser5112Phe | |
| XM_017000830.2:c.15284C>T | XP_016856319.2:p.Ser5095Phe | |
| NM_020765.3:c.15275C>T MANE Select | NP_065816.2:p.Ser5092Phe |