Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.21001783C>A , CM000664.2:g.21001783C>A | GRCh38 |
| NC_000002.11:g.21224655C>A , CM000664.1:g.21224655C>A | GRCh37 |
| NC_000002.10:g.21078160C>A | NCBI36 |
| NG_011793.1:g.47291G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000233242.5:c.13639G>T MANE Select | ENSP00000233242.1:p.Val4547Phe | |
| ENST00000616098.4:c.13637G>T | ENSP00000477990.1:n.13637G>T | |
| NM_000384.2:c.13639G>T | NP_000375.2:p.Val4547Phe | |
| XM_011532809.1:c.5870-2510G>T | XP_011531111.1:n.5870-2510G>T | |
| NM_000384.3:c.13639G>T MANE Select | NP_000375.3:p.Val4547Phe |