Linked Data
dbSNP Id:
rs1199525508
gnomAD v2:
Y-14945639-C-T
gnomAD v3:
Y-12833713-C-T
gnomAD v4:
Y-12833713-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.12833713C>T , CM000686.2:g.12833713C>T | GRCh38 |
| NC_000024.9:g.14945639C>T , CM000686.1:g.14945639C>T | GRCh37 |
| NC_000024.8:g.13455033C>T | NCBI36 |
| NG_008311.1:g.137480C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651177.1:c.5047C>T | ENSP00000498372.1:p.Arg1683Cys | |
| ENST00000338981.7:c.5047C>T MANE Select | ENSP00000342812.3:p.Arg1683Cys | |
| ENST00000426564.6:n.5059C>T | ||
| NM_004654.3:c.5047C>T | NP_004645.2:p.Arg1683Cys | |
| XM_011531469.1:c.5047C>T | XP_011529771.1:p.Arg1683Cys | |
| XM_011531470.1:c.4813C>T | XP_011529772.1:p.Arg1605Cys | |
| XM_017030078.2:c.5062C>T | XP_016885567.1:p.Arg1688Cys | |
| NM_004654.4:c.5047C>T MANE Select | NP_004645.2:p.Arg1683Cys |