Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.2061052C>T , CM000666.2:g.2061052C>T | GRCh38 |
| NC_000004.11:g.2062779C>T , CM000666.1:g.2062779C>T | GRCh37 |
| NC_000004.10:g.2032577C>T | NCBI36 |
| NG_027961.1:g.6541C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_178557.4:c.431C>T MANE Select | NP_848652.2:p.Ala144Val |
| ENST00000423729.3:c.431C>T MANE Select | ENSP00000413064.2:p.Ala144Val |
| NM_178557.3:c.431C>T | NP_848652.2:p.Ala144Val |
| ENST00000331662.3:c.-74C>T | ENSP00000328464.3:n.-74C>T |
| ENST00000423729.2:c.431C>T | ENSP00000413064.2:p.Ala144Val |