Linked Data
dbSNP Id:
rs1255239425
gnomAD v2:
13-48619916-A-G
gnomAD v3:
13-48045780-A-G
gnomAD v4:
13-48045780-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.48045780A>G , CM000675.2:g.48045780A>G | GRCh38 |
| NC_000013.10:g.48619916A>G , CM000675.1:g.48619916A>G | GRCh37 |
| NC_000013.9:g.47517917A>G | NCBI36 |
| NG_047021.1:g.13214A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258662.3:c.476A>G MANE Select | ENSP00000258662.1:p.Tyr159Cys | |
| ENST00000258662.2:c.476A>G | ENSP00000258662.1:p.Tyr159Cys | |
| NM_018283.2:c.476A>G | NP_060753.1:p.Tyr159Cys | |
| NM_018283.3:c.476A>G | NP_060753.1:p.Tyr159Cys | |
| NR_136687.1:n.656A>G | ||
| NR_136688.1:n.656A>G | ||
| NM_018283.4:c.476A>G MANE Select | NP_060753.1:p.Tyr159Cys | |
| NR_136687.2:n.497A>G | ||
| NR_136688.2:n.497A>G |