Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.42839283T>A , CM000670.2:g.42839283T>A | GRCh38 |
| NC_000008.10:g.42694426T>A , CM000670.1:g.42694426T>A | GRCh37 |
| NC_000008.9:g.42813583T>A | NCBI36 |
| NG_011837.1:g.9049A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000254250.7:c.170A>T MANE Select | ENSP00000254250.3:p.His57Leu | |
| ENST00000345117.2:c.72-947A>T | ENSP00000344966.2:n.72-947A>T | |
| ENST00000529779.1:c.170A>T | ENSP00000433912.1:p.His57Leu | |
| ENST00000532093.1:n.400A>T | ||
| NM_018105.2:c.170A>T | NP_060575.1:p.His57Leu | |
| NM_199003.1:c.72-947A>T | NP_945354.1:n.72-947A>T | |
| NM_018105.3:c.170A>T MANE Select | NP_060575.1:p.His57Leu | |
| NM_199003.2:c.72-947A>T | NP_945354.1:n.72-947A>T |