Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.76949167C>T , CM000677.2:g.76949167C>T | GRCh38 |
| NC_000015.9:g.77241508C>T , CM000677.1:g.77241508C>T | GRCh37 |
| NC_000015.8:g.75028563C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002902.3:c.899C>T MANE Select | NP_002893.1:p.Ala300Val |
| ENST00000394885.8:c.899C>T MANE Select | ENSP00000378349.3:p.Ala300Val |
| NM_001271837.1:c.953C>T | NP_001258766.1:p.Ala318Val |
| NM_001271837.2:c.953C>T | NP_001258766.1:p.Ala318Val |
| NM_002902.2:c.899C>T | NP_002893.1:p.Ala300Val |
| ENST00000320963.9:c.953C>T | ENSP00000319739.5:p.Ala318Val |
| ENST00000394883.3:c.596C>T | ENSP00000378347.3:p.Ala199Val |
| ENST00000394885.7:c.899C>T | ENSP00000378349.3:p.Ala300Val |