Linked Data
dbSNP Id:
rs781112927
ExAC:
2:15564479 T / C
gnomAD v2:
2-15564479-T-C
gnomAD v4:
2-15424355-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.15424355T>C , CM000664.2:g.15424355T>C | GRCh38 |
| NC_000002.11:g.15564479T>C , CM000664.1:g.15564479T>C | GRCh37 |
| NC_000002.10:g.15481930T>C | NCBI36 |
| NG_032964.1:g.141994A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700061.1:c.634A>G | ||
| ENST00000700062.1:c.634A>G | ||
| ENST00000700065.1:n.2550A>G | ||
| ENST00000700066.1:c.2054A>G | ENSP00000514780.1:p.Tyr685Cys | |
| ENST00000281513.10:c.2537A>G MANE Select | ENSP00000281513.5:p.Tyr846Cys | |
| ENST00000281513.9:c.2537A>G | ENSP00000281513.5:p.Tyr846Cys | |
| ENST00000441755.5:c.38A>G | ENSP00000396501.1:p.Tyr13Cys | |
| ENST00000442506.5:c.40A>G | ||
| NM_015909.3:c.2537A>G | NP_056993.2:p.Tyr846Cys | |
| NR_052013.2:n.2581A>G | ||
| XM_011510357.1:c.2408A>G | XP_011508659.1:p.Tyr803Cys | |
| XM_011510358.1:c.2537A>G | XP_011508660.1:p.Tyr846Cys | |
| XM_011510359.1:c.1898A>G | XP_011508661.1:p.Tyr633Cys | |
| XM_011510360.1:c.338A>G | XP_011508662.1:p.Tyr113Cys | |
| XM_011510361.1:c.329A>G | XP_011508663.1:p.Tyr110Cys | |
| XM_011510357.2:c.2408A>G | XP_011508659.1:p.Tyr803Cys | |
| XM_011510358.2:c.2537A>G | XP_011508660.1:p.Tyr846Cys | |
| XM_011510360.2:c.338A>G | XP_011508662.1:p.Tyr113Cys | |
| XM_011510361.2:c.329A>G | XP_011508663.1:p.Tyr110Cys | |
| XM_017004317.1:c.2537A>G | XP_016859806.1:p.Tyr846Cys | |
| XM_024452961.1:c.1898A>G | XP_024308729.1:p.Tyr633Cys | |
| NM_015909.4:c.2537A>G MANE Select | NP_056993.2:p.Tyr846Cys | |
| NR_052013.3:n.2567A>G |