Linked Data
dbSNP Id:
rs769255993
gnomAD v2:
2-241516032-C-T
gnomAD v3:
2-240576615-C-T
gnomAD v4:
2-240576615-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240576615C>T , CM000664.2:g.240576615C>T | GRCh38 |
| NC_000002.11:g.241516032C>T , CM000664.1:g.241516032C>T | GRCh37 |
| NC_000002.10:g.241164705C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000270357.10:c.1591C>T MANE Select | ENSP00000270357.4:p.Arg531Trp | |
| ENST00000270357.8:c.898C>T | ENSP00000270357.3:p.Arg300Trp | |
| ENST00000437406.1:c.157C>T | ENSP00000403319.1:p.Arg53Trp | |
| ENST00000451363.5:c.232C>T | ENSP00000414661.1:p.Arg78Trp | |
| ENST00000464550.5:n.427C>T | ||
| ENST00000471657.1:n.394C>T | ||
| ENST00000481757.5:n.2525C>T | ||
| ENST00000486058.5:n.1704C>T | ||
| ENST00000493398.5:n.737C>T | ||
| NM_018226.4:c.1591C>T | NP_060696.4:p.Arg531Trp | |
| XM_005247036.3:c.1558C>T | XP_005247093.1:p.Arg520Trp | |
| NM_018226.5:c.1591C>T | NP_060696.4:p.Arg531Trp | |
| XM_005247036.4:c.1558C>T | XP_005247093.1:p.Arg520Trp | |
| NM_018226.6:c.1591C>T MANE Select | NP_060696.4:p.Arg531Trp |