Linked Data
dbSNP Id:
rs771053182
ExAC:
1:19404501 G / C
gnomAD v2:
1-19404501-G-C
gnomAD v3:
1-19078007-G-C
gnomAD v4:
1-19078007-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.19078007G>C , CM000663.2:g.19078007G>C | GRCh38 |
| NC_000001.10:g.19404501G>C , CM000663.1:g.19404501G>C | GRCh37 |
| NC_000001.9:g.19277088G>C | NCBI36 |
| NG_027669.1:g.137246C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375254.8:c.15293C>G MANE Select | ENSP00000364403.3:p.Ala5098Gly | |
| ENST00000375224.1:c.2414C>G | ENSP00000364372.1:p.Ala805Gly | |
| ENST00000375225.7:c.518C>G | ENSP00000364373.3:p.Ala173Gly | |
| ENST00000375254.7:c.15293C>G | ENSP00000364403.3:p.Ala5098Gly | |
| ENST00000459947.5:n.3300C>G | ||
| NM_020765.2:c.15293C>G | NP_065816.2:p.Ala5098Gly | |
| XM_011541108.1:c.15446C>G | XP_011539410.1:p.Ala5149Gly | |
| XM_011541109.1:c.15443C>G | XP_011539411.1:p.Ala5148Gly | |
| XM_011541110.1:c.15443C>G | XP_011539412.1:p.Ala5148Gly | |
| XM_011541111.1:c.15443C>G | XP_011539413.1:p.Ala5148Gly | |
| XM_011541112.1:c.15431C>G | XP_011539414.1:p.Ala5144Gly | |
| XM_011541113.1:c.15428C>G | XP_011539415.1:p.Ala5143Gly | |
| XM_011541114.1:c.15428C>G | XP_011539416.1:p.Ala5143Gly | |
| XM_011541115.1:c.15422C>G | XP_011539417.1:p.Ala5141Gly | |
| XM_011541116.1:c.15413C>G | XP_011539418.1:p.Ala5138Gly | |
| XM_011541117.1:c.15362C>G | XP_011539419.1:p.Ala5121Gly | |
| XM_011541118.1:c.15359C>G | XP_011539420.1:p.Ala5120Gly | |
| XM_011541119.1:c.15326C>G | XP_011539421.1:p.Ala5109Gly | |
| XM_011541120.1:c.15323C>G | XP_011539422.1:p.Ala5108Gly | |
| XM_011541121.1:c.15290C>G | XP_011539423.1:p.Ala5097Gly | |
| XM_011541108.3:c.15560C>G | XP_011539410.2:p.Ala5187Gly | |
| XM_011541109.3:c.15557C>G | XP_011539411.2:p.Ala5186Gly | |
| XM_011541110.3:c.15557C>G | XP_011539412.2:p.Ala5186Gly | |
| XM_011541111.3:c.15557C>G | XP_011539413.2:p.Ala5186Gly | |
| XM_011541112.3:c.15545C>G | XP_011539414.2:p.Ala5182Gly | |
| XM_011541113.3:c.15542C>G | XP_011539415.2:p.Ala5181Gly | |
| XM_011541114.3:c.15542C>G | XP_011539416.2:p.Ala5181Gly | |
| XM_011541115.3:c.15536C>G | XP_011539417.2:p.Ala5179Gly | |
| XM_011541116.3:c.15527C>G | XP_011539418.2:p.Ala5176Gly | |
| XM_011541117.3:c.15476C>G | XP_011539419.2:p.Ala5159Gly | |
| XM_011541118.3:c.15473C>G | XP_011539420.2:p.Ala5158Gly | |
| XM_011541119.3:c.15440C>G | XP_011539421.2:p.Ala5147Gly | |
| XM_011541120.3:c.15437C>G | XP_011539422.2:p.Ala5146Gly | |
| XM_011541121.3:c.15404C>G | XP_011539423.2:p.Ala5135Gly | |
| XM_017000822.2:c.15539C>G | XP_016856311.2:p.Ala5180Gly | |
| XM_017000823.2:c.15512C>G | XP_016856312.2:p.Ala5171Gly | |
| XM_017000824.2:c.15458C>G | XP_016856313.2:p.Ala5153Gly | |
| XM_017000825.2:c.15443C>G | XP_016856314.2:p.Ala5148Gly | |
| XM_017000826.2:c.15440C>G | XP_016856315.2:p.Ala5147Gly | |
| XM_017000827.2:c.15425C>G | XP_016856316.2:p.Ala5142Gly | |
| XM_017000828.2:c.15401C>G | XP_016856317.2:p.Ala5134Gly | |
| XM_017000829.2:c.15353C>G | XP_016856318.2:p.Ala5118Gly | |
| XM_017000830.2:c.15302C>G | XP_016856319.2:p.Ala5101Gly | |
| NM_020765.3:c.15293C>G MANE Select | NP_065816.2:p.Ala5098Gly |