Linked Data
dbSNP Id:
rs35489000
ExAC:
5:10286468 T / C
gnomAD v2:
5-10286468-T-C
gnomAD v3:
5-10286356-T-C
gnomAD v4:
5-10286356-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.10286356T>C , CM000667.2:g.10286356T>C | GRCh38 |
| NC_000005.9:g.10286468T>C , CM000667.1:g.10286468T>C | GRCh37 |
| NC_000005.8:g.10339468T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000296658.4:c.464A>G MANE Select | ENSP00000296658.3:p.Tyr155Cys | |
| ENST00000296658.3:c.464A>G | ENSP00000296658.3:p.Tyr155Cys | |
| ENST00000506821.1:n.718A>G | ||
| ENST00000510532.5:n.532A>G | ||
| ENST00000511963.5:n.572A>G | ||
| NM_138809.3:c.464A>G | NP_620164.1:p.Tyr155Cys | |
| NM_138809.4:c.464A>G MANE Select | NP_620164.1:p.Tyr155Cys |