Linked Data
dbSNP Id:
rs776210861
ExAC:
8:18258250 A / G
gnomAD v2:
8-18258250-A-G
gnomAD v4:
8-18400740-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.18400740A>G , CM000670.2:g.18400740A>G | GRCh38 |
| NC_000008.10:g.18258250A>G , CM000670.1:g.18258250A>G | GRCh37 |
| NC_000008.9:g.18302530A>G | NCBI36 |
| NG_012246.1:g.14496A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000286479.4:c.737A>G MANE Select | ENSP00000286479.3:p.Tyr246Cys | |
| ENST00000286479.3:c.737A>G | ENSP00000286479.3:p.Tyr246Cys | |
| ENST00000520116.1:c.347A>G | ENSP00000428416.1:p.Tyr116Cys | |
| NM_000015.2:c.737A>G | NP_000006.2:p.Tyr246Cys | |
| XM_011544358.1:c.737A>G | XP_011542660.1:p.Tyr246Cys | |
| XM_017012938.1:c.737A>G | XP_016868427.1:p.Tyr246Cys | |
| NM_000015.3:c.737A>G MANE Select | NP_000006.2:p.Tyr246Cys |