Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.67939933C>T , CM000678.2:g.67939933C>T | GRCh38 |
| NC_000016.9:g.67973836C>T , CM000678.1:g.67973836C>T | GRCh37 |
| NC_000016.8:g.66531337C>T | NCBI36 |
| NG_009778.1:g.9180G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000229.2:c.1294G>A MANE Select | NP_000220.1:p.Ala432Thr |
| ENST00000264005.10:c.1294G>A MANE Select | ENSP00000264005.5:p.Ala432Thr |
| NM_000229.1:c.1294G>A | NP_000220.1:p.Ala432Thr |
| ENST00000264005.9:c.1294G>A | ENSP00000264005.5:p.Ala432Thr |
| ENST00000570369.5:c.297G>A | |
| ENST00000573538.5:c.1032G>A | ENSP00000463220.1:n.1032G>A |