Linked Data
ClinVar Variation Id:
287532
dbSNP Id:
rs143539004
ExAC:
8:27634402 C / T
gnomAD v2:
8-27634402-C-T
gnomAD v3:
8-27776885-C-T
gnomAD v4:
8-27776885-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.27776885C>T , CM000670.2:g.27776885C>T | GRCh38 |
| NC_000008.10:g.27634402C>T , CM000670.1:g.27634402C>T | GRCh37 |
| NC_000008.9:g.27690321C>T | NCBI36 |
| NG_008117.1:g.7345C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000305188.13:c.577C>T MANE Select | ENSP00000306999.8:p.Arg193Trp | |
| ENST00000305188.12:c.577C>T | ENSP00000306999.8:p.Arg193Trp | |
| ENST00000522378.5:c.577C>T | ENSP00000428928.1:p.Arg193Trp | |
| ENST00000523910.1:n.376C>T | ||
| ENST00000524293.1:n.595C>T | ||
| NM_001017420.2:c.577C>T | NP_001017420.1:p.Arg193Trp | |
| XM_011544421.1:c.577C>T | XP_011542723.1:p.Arg193Trp | |
| XM_011544422.1:c.577C>T | XP_011542724.1:p.Arg193Trp | |
| XR_949378.1:n.661C>T | ||
| XR_949379.1:n.661C>T | ||
| XM_011544421.2:c.577C>T | XP_011542723.1:p.Arg193Trp | |
| XM_011544422.2:c.577C>T | XP_011542724.1:p.Arg193Trp | |
| XR_949378.3:n.661C>T | ||
| NM_001017420.3:c.577C>T MANE Select | NP_001017420.1:p.Arg193Trp |