Linked Data
dbSNP Id:
rs749581631
ExAC:
1:19404500 G / C
gnomAD v2:
1-19404500-G-C
gnomAD v3:
1-19078006-G-C
gnomAD v4:
1-19078006-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.19078006G>C , CM000663.2:g.19078006G>C | GRCh38 |
| NC_000001.10:g.19404500G>C , CM000663.1:g.19404500G>C | GRCh37 |
| NC_000001.9:g.19277087G>C | NCBI36 |
| NG_027669.1:g.137247C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375254.8:c.15294C>G MANE Select | ENSP00000364403.3:p.Ala5098= | |
| ENST00000375224.1:c.2415C>G | ENSP00000364372.1:p.Ala805= | |
| ENST00000375225.7:c.519C>G | ENSP00000364373.3:p.Ala173= | |
| ENST00000375254.7:c.15294C>G | ENSP00000364403.3:p.Ala5098= | |
| ENST00000459947.5:n.3301C>G | ||
| NM_020765.2:c.15294C>G | NP_065816.2:p.Ala5098= | |
| XM_011541108.1:c.15447C>G | XP_011539410.1:p.Ala5149= | |
| XM_011541109.1:c.15444C>G | XP_011539411.1:p.Ala5148= | |
| XM_011541110.1:c.15444C>G | XP_011539412.1:p.Ala5148= | |
| XM_011541111.1:c.15444C>G | XP_011539413.1:p.Ala5148= | |
| XM_011541112.1:c.15432C>G | XP_011539414.1:p.Ala5144= | |
| XM_011541113.1:c.15429C>G | XP_011539415.1:p.Ala5143= | |
| XM_011541114.1:c.15429C>G | XP_011539416.1:p.Ala5143= | |
| XM_011541115.1:c.15423C>G | XP_011539417.1:p.Ala5141= | |
| XM_011541116.1:c.15414C>G | XP_011539418.1:p.Ala5138= | |
| XM_011541117.1:c.15363C>G | XP_011539419.1:p.Ala5121= | |
| XM_011541118.1:c.15360C>G | XP_011539420.1:p.Ala5120= | |
| XM_011541119.1:c.15327C>G | XP_011539421.1:p.Ala5109= | |
| XM_011541120.1:c.15324C>G | XP_011539422.1:p.Ala5108= | |
| XM_011541121.1:c.15291C>G | XP_011539423.1:p.Ala5097= | |
| XM_011541108.3:c.15561C>G | XP_011539410.2:p.Ala5187= | |
| XM_011541109.3:c.15558C>G | XP_011539411.2:p.Ala5186= | |
| XM_011541110.3:c.15558C>G | XP_011539412.2:p.Ala5186= | |
| XM_011541111.3:c.15558C>G | XP_011539413.2:p.Ala5186= | |
| XM_011541112.3:c.15546C>G | XP_011539414.2:p.Ala5182= | |
| XM_011541113.3:c.15543C>G | XP_011539415.2:p.Ala5181= | |
| XM_011541114.3:c.15543C>G | XP_011539416.2:p.Ala5181= | |
| XM_011541115.3:c.15537C>G | XP_011539417.2:p.Ala5179= | |
| XM_011541116.3:c.15528C>G | XP_011539418.2:p.Ala5176= | |
| XM_011541117.3:c.15477C>G | XP_011539419.2:p.Ala5159= | |
| XM_011541118.3:c.15474C>G | XP_011539420.2:p.Ala5158= | |
| XM_011541119.3:c.15441C>G | XP_011539421.2:p.Ala5147= | |
| XM_011541120.3:c.15438C>G | XP_011539422.2:p.Ala5146= | |
| XM_011541121.3:c.15405C>G | XP_011539423.2:p.Ala5135= | |
| XM_017000822.2:c.15540C>G | XP_016856311.2:p.Ala5180= | |
| XM_017000823.2:c.15513C>G | XP_016856312.2:p.Ala5171= | |
| XM_017000824.2:c.15459C>G | XP_016856313.2:p.Ala5153= | |
| XM_017000825.2:c.15444C>G | XP_016856314.2:p.Ala5148= | |
| XM_017000826.2:c.15441C>G | XP_016856315.2:p.Ala5147= | |
| XM_017000827.2:c.15426C>G | XP_016856316.2:p.Ala5142= | |
| XM_017000828.2:c.15402C>G | XP_016856317.2:p.Ala5134= | |
| XM_017000829.2:c.15354C>G | XP_016856318.2:p.Ala5118= | |
| XM_017000830.2:c.15303C>G | XP_016856319.2:p.Ala5101= | |
| NM_020765.3:c.15294C>G MANE Select | NP_065816.2:p.Ala5098= |