Linked Data
dbSNP Id:
rs1250786427
gnomAD v2:
11-121178034-A-G
gnomAD v3:
11-121307325-A-G
gnomAD v4:
11-121307325-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.121307325A>G , CM000673.2:g.121307325A>G | GRCh38 |
| NC_000011.9:g.121178034A>G , CM000673.1:g.121178034A>G | GRCh37 |
| NC_000011.8:g.120683244A>G | NCBI36 |
| NG_009446.1:g.19647A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264027.9:c.713A>G MANE Select | ENSP00000264027.4:p.Tyr238Cys | |
| ENST00000264027.8:c.713A>G | ENSP00000264027.4:p.Tyr238Cys | |
| ENST00000392789.2:c.713A>G | ENSP00000376539.2:p.Tyr238Cys | |
| ENST00000527183.1:n.1006A>G | ||
| ENST00000534230.5:c.631+82A>G | ENSP00000432550.1:n.631+82A>G | |
| NM_001024956.2:c.713A>G | NP_001020127.1:p.Tyr238Cys | |
| NM_006918.4:c.713A>G | NP_008849.2:p.Tyr238Cys | |
| NM_006918.5:c.713A>G MANE Select | NP_008849.2:p.Tyr238Cys | |
| NM_001024956.3:c.713A>G | NP_001020127.1:p.Tyr238Cys |