Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.13875000C>A , CM000665.2:g.13875000C>A | GRCh38 |
| NC_000003.11:g.13916497C>A , CM000665.1:g.13916497C>A | GRCh37 |
| NC_000003.10:g.13891498C>A | NCBI36 |
| NG_008088.1:g.10122G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000285018.5:c.245G>T MANE Select | ENSP00000285018.4:p.Trp82Leu | |
| ENST00000285018.4:c.245G>T | ENSP00000285018.4:p.Trp82Leu | |
| ENST00000489346.1:n.114G>T | ||
| ENST00000497808.1:n.477G>T | ||
| NM_004625.3:c.245G>T | NP_004616.2:p.Trp82Leu | |
| XM_011534090.1:c.44G>T | XP_011532392.1:p.Trp15Leu | |
| XM_011534091.1:c.44G>T | XP_011532393.1:p.Trp15Leu | |
| XM_011534091.2:c.44G>T | XP_011532393.1:p.Trp15Leu | |
| NM_004625.4:c.245G>T MANE Select | NP_004616.2:p.Trp82Leu |