Linked Data
dbSNP Id:
rs376308497
ExAC:
18:22057138 C / G
gnomAD v2:
18-22057138-C-G
gnomAD v3:
18-24477174-C-G
gnomAD v4:
18-24477174-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.24477174C>G , CM000680.2:g.24477174C>G | GRCh38 |
| NC_000018.9:g.22057138C>G , CM000680.1:g.22057138C>G | GRCh37 |
| NC_000018.8:g.20311136C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000256906.5:c.785C>G MANE Select | ENSP00000256906.4:p.Ser262Cys | |
| ENST00000256906.4:c.785C>G | ENSP00000256906.4:p.Ser262Cys | |
| ENST00000426880.2:c.521C>G | ENSP00000402526.2:p.Ser174Cys | |
| NM_001143828.1:c.521C>G | NP_001137300.1:p.Ser174Cys | |
| NM_001160166.1:c.*417C>G | NP_001153638.1:n.*417C>G | |
| NM_021624.3:c.785C>G | NP_067637.2:p.Ser262Cys | |
| XM_011526133.1:c.357+8223C>G | XP_011524435.1:n.357+8223C>G | |
| NM_021624.4:c.785C>G MANE Select | NP_067637.2:p.Ser262Cys | |
| NM_001143828.2:c.521C>G | NP_001137300.1:p.Ser174Cys | |
| NM_001160166.2:c.*417C>G | NP_001153638.1:n.*417C>G |