Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.23413564C>T , CM000678.2:g.23413564C>T | GRCh38 |
| NC_000016.9:g.23424885C>T , CM000678.1:g.23424885C>T | GRCh37 |
| NC_000016.8:g.23332386C>T | NCBI36 |
| NG_021287.1:g.44628G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_153603.4:c.1293G>A MANE Select | NP_705831.1:p.Lys431= |
| ENST00000307149.10:c.1293G>A MANE Select | ENSP00000305442.5:p.Lys431= |
| NM_153603.3:c.1293G>A | NP_705831.1:p.Lys431= |
| ENST00000307149.9:c.1293G>A | ENSP00000305442.5:p.Lys431= |
| ENST00000567821.1:n.328G>A | |
| XM_017023870.1:c.1098G>A | XP_016879359.1:p.Lys366= |
| XR_002957852.1:n.1514G>A | |
| XR_429680.1:n.1509G>A | |
| XR_429680.2:n.1514G>A |