Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.26607942A>T , CM000684.2:g.26607942A>T | GRCh38 |
| NC_000022.10:g.27003906A>T , CM000684.1:g.27003906A>T | GRCh37 |
| NC_000022.9:g.25333906A>T | NCBI36 |
| NG_009826.1:g.15086T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647569.1:n.191T>A | ||
| ENST00000647684.1:c.379T>A MANE Select | ENSP00000497249.1:p.Trp127Arg | |
| ENST00000215939.2:c.379T>A | ENSP00000215939.2:p.Trp127Arg | |
| NM_001887.3:c.379T>A | NP_001878.1:p.Trp127Arg | |
| XM_011529899.1:c.379T>A | XP_011528201.1:p.Trp127Arg | |
| NM_001887.4:c.379T>A MANE Select | NP_001878.1:p.Trp127Arg | |
| XM_011529899.3:c.379T>A | XP_011528201.1:p.Trp127Arg |