Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.71572657G>A , CM000678.2:g.71572657G>A | GRCh38 |
| NC_000016.9:g.71606560G>A , CM000678.1:g.71606560G>A | GRCh37 |
| NC_000016.8:g.70164061G>A | NCBI36 |
| NG_008235.1:g.9439C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000353.3:c.440C>T MANE Select | NP_000344.1:p.Ala147Val |
| ENST00000355962.5:c.440C>T MANE Select | ENSP00000348234.4:p.Ala147Val |
| NM_000353.2:c.440C>T | NP_000344.1:p.Ala147Val |
| ENST00000355962.4:c.440C>T | ENSP00000348234.4:p.Ala147Val |