Linked Data
dbSNP Id:
rs755010257
ExAC:
1:19404487 T / C
gnomAD v2:
1-19404487-T-C
gnomAD v3:
1-19077993-T-C
gnomAD v4:
1-19077993-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.19077993T>C , CM000663.2:g.19077993T>C | GRCh38 |
| NC_000001.10:g.19404487T>C , CM000663.1:g.19404487T>C | GRCh37 |
| NC_000001.9:g.19277074T>C | NCBI36 |
| NG_027669.1:g.137260A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375254.8:c.15307A>G MANE Select | ENSP00000364403.3:p.Ile5103Val | |
| ENST00000375224.1:c.2428A>G | ENSP00000364372.1:p.Ile810Val | |
| ENST00000375225.7:c.532A>G | ENSP00000364373.3:p.Ile178Val | |
| ENST00000375254.7:c.15307A>G | ENSP00000364403.3:p.Ile5103Val | |
| ENST00000459947.5:n.3314A>G | ||
| NM_020765.2:c.15307A>G | NP_065816.2:p.Ile5103Val | |
| XM_011541108.1:c.15460A>G | XP_011539410.1:p.Ile5154Val | |
| XM_011541109.1:c.15457A>G | XP_011539411.1:p.Ile5153Val | |
| XM_011541110.1:c.15457A>G | XP_011539412.1:p.Ile5153Val | |
| XM_011541111.1:c.15457A>G | XP_011539413.1:p.Ile5153Val | |
| XM_011541112.1:c.15445A>G | XP_011539414.1:p.Ile5149Val | |
| XM_011541113.1:c.15442A>G | XP_011539415.1:p.Ile5148Val | |
| XM_011541114.1:c.15442A>G | XP_011539416.1:p.Ile5148Val | |
| XM_011541115.1:c.15436A>G | XP_011539417.1:p.Ile5146Val | |
| XM_011541116.1:c.15427A>G | XP_011539418.1:p.Ile5143Val | |
| XM_011541117.1:c.15376A>G | XP_011539419.1:p.Ile5126Val | |
| XM_011541118.1:c.15373A>G | XP_011539420.1:p.Ile5125Val | |
| XM_011541119.1:c.15340A>G | XP_011539421.1:p.Ile5114Val | |
| XM_011541120.1:c.15337A>G | XP_011539422.1:p.Ile5113Val | |
| XM_011541121.1:c.15304A>G | XP_011539423.1:p.Ile5102Val | |
| XM_011541108.3:c.15574A>G | XP_011539410.2:p.Ile5192Val | |
| XM_011541109.3:c.15571A>G | XP_011539411.2:p.Ile5191Val | |
| XM_011541110.3:c.15571A>G | XP_011539412.2:p.Ile5191Val | |
| XM_011541111.3:c.15571A>G | XP_011539413.2:p.Ile5191Val | |
| XM_011541112.3:c.15559A>G | XP_011539414.2:p.Ile5187Val | |
| XM_011541113.3:c.15556A>G | XP_011539415.2:p.Ile5186Val | |
| XM_011541114.3:c.15556A>G | XP_011539416.2:p.Ile5186Val | |
| XM_011541115.3:c.15550A>G | XP_011539417.2:p.Ile5184Val | |
| XM_011541116.3:c.15541A>G | XP_011539418.2:p.Ile5181Val | |
| XM_011541117.3:c.15490A>G | XP_011539419.2:p.Ile5164Val | |
| XM_011541118.3:c.15487A>G | XP_011539420.2:p.Ile5163Val | |
| XM_011541119.3:c.15454A>G | XP_011539421.2:p.Ile5152Val | |
| XM_011541120.3:c.15451A>G | XP_011539422.2:p.Ile5151Val | |
| XM_011541121.3:c.15418A>G | XP_011539423.2:p.Ile5140Val | |
| XM_017000822.2:c.15553A>G | XP_016856311.2:p.Ile5185Val | |
| XM_017000823.2:c.15526A>G | XP_016856312.2:p.Ile5176Val | |
| XM_017000824.2:c.15472A>G | XP_016856313.2:p.Ile5158Val | |
| XM_017000825.2:c.15457A>G | XP_016856314.2:p.Ile5153Val | |
| XM_017000826.2:c.15454A>G | XP_016856315.2:p.Ile5152Val | |
| XM_017000827.2:c.15439A>G | XP_016856316.2:p.Ile5147Val | |
| XM_017000828.2:c.15415A>G | XP_016856317.2:p.Ile5139Val | |
| XM_017000829.2:c.15367A>G | XP_016856318.2:p.Ile5123Val | |
| XM_017000830.2:c.15316A>G | XP_016856319.2:p.Ile5106Val | |
| NM_020765.3:c.15307A>G MANE Select | NP_065816.2:p.Ile5103Val |