Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.169238246C>A , CM000664.2:g.169238246C>A | GRCh38 |
| NC_000002.11:g.170094756C>A , CM000664.1:g.170094756C>A | GRCh37 |
| NC_000002.10:g.169803002C>A | NCBI36 |
| NG_012634.1:g.129367G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004525.3:c.4351G>T MANE Select | NP_004516.2:p.Val1451Phe |
| ENST00000649046.1:c.4351G>T MANE Select | ENSP00000496870.1:p.Val1451Phe |
| NM_004525.2:c.4351G>T | NP_004516.2:p.Val1451Phe |
| ENST00000263816.7:c.4351G>T | ENSP00000263816.3:p.Val1451Phe |
| XM_011511183.1:c.4351G>T | XP_011509485.1:p.Val1451Phe |
| XM_011511183.3:c.4351G>T | XP_011509485.1:p.Val1451Phe |
| XM_011511184.1:c.2062G>T | XP_011509486.1:p.Val688Phe |
| XM_011511184.2:c.2062G>T | XP_011509486.1:p.Val688Phe |
| XM_011511185.1:c.4351G>T | XP_011509487.1:p.Val1451Phe |