Linked Data
dbSNP Id:
rs1255261975
gnomAD v2:
X-22115113-A-G
gnomAD v3:
X-22096995-A-G
gnomAD v4:
X-22096995-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.22096995A>G , CM000685.2:g.22096995A>G | GRCh38 |
| NC_000023.10:g.22115113A>G , CM000685.1:g.22115113A>G | GRCh37 |
| NC_000023.9:g.22025034A>G | NCBI36 |
| NG_007563.2:g.69193A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000475778.2:n.1316A>G | ||
| ENST00000684143.1:c.887A>G | ENSP00000508264.1:p.Tyr296Cys | |
| ENST00000684745.1:n.564A>G | ||
| ENST00000379374.5:c.890A>G MANE Select | ENSP00000368682.4:p.Tyr297Cys | |
| ENST00000379374.4:c.890A>G | ENSP00000368682.4:p.Tyr297Cys | |
| ENST00000475778.1:n.163A>G | ||
| NM_000444.5:c.890A>G | NP_000435.3:p.Tyr297Cys | |
| NM_001282754.1:c.890A>G | NP_001269683.1:p.Tyr297Cys | |
| XM_011545533.1:c.134A>G | XP_011543835.1:p.Tyr45Cys | |
| XM_011545534.1:c.134A>G | XP_011543836.1:p.Tyr45Cys | |
| XM_011545535.1:c.890A>G | XP_011543837.1:p.Tyr297Cys | |
| XM_017029579.1:c.134A>G | XP_016885068.1:p.Tyr45Cys | |
| XM_024452390.1:c.599A>G | XP_024308158.1:p.Tyr200Cys | |
| XR_001755695.1:n.1569A>G | ||
| NM_000444.6:c.890A>G MANE Select | NP_000435.3:p.Tyr297Cys | |
| NM_001282754.2:c.890A>G | NP_001269683.1:p.Tyr297Cys |