Linked Data
dbSNP Id:
rs772415826
gnomAD v2:
2-163291993-A-T
gnomAD v3:
2-162435483-A-T
gnomAD v4:
2-162435483-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.162435483A>T , CM000664.2:g.162435483A>T | GRCh38 |
| NC_000002.11:g.163291993A>T , CM000664.1:g.163291993A>T | GRCh37 |
| NC_000002.10:g.163000239A>T | NCBI36 |
| NG_041938.1:g.408265T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000332142.10:c.1669T>A MANE Select | ENSP00000331727.5:p.Cys557Ser | |
| ENST00000328032.8:c.1648T>A | ENSP00000333781.4:p.Cys550Ser | |
| ENST00000332142.9:c.1669T>A | ENSP00000331727.5:p.Cys557Ser | |
| ENST00000618399.4:c.1369T>A | ENSP00000482818.1:p.Cys457Ser | |
| ENST00000621889.1:c.1342T>A | ENSP00000483158.1:p.Cys448Ser | |
| NM_033272.3:c.1669T>A | NP_150375.2:p.Cys557Ser | |
| NM_173162.2:c.1648T>A | NP_775185.1:p.Cys550Ser | |
| XM_011512109.1:c.1693T>A | XP_011510411.1:p.Cys565Ser | |
| XM_011512109.3:c.1693T>A | XP_011510411.1:p.Cys565Ser | |
| XM_017005218.2:c.1693T>A | XP_016860707.1:p.Cys565Ser | |
| XM_017005219.2:c.1669T>A | XP_016860708.1:p.Cys557Ser | |
| XM_017005220.2:c.1648T>A | XP_016860709.1:p.Cys550Ser | |
| XM_017005221.2:c.1693T>A | XP_016860710.1:p.Cys565Ser | |
| NM_033272.4:c.1669T>A MANE Select | NP_150375.2:p.Cys557Ser | |
| NM_173162.3:c.1648T>A | NP_775185.1:p.Cys550Ser |