Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.85306198G>T , CM000685.2:g.85306198G>T | GRCh38 |
| NC_000023.10:g.84561204G>T , CM000685.1:g.84561204G>T | GRCh37 |
| NC_000023.9:g.84447860G>T | NCBI36 |
| NG_016358.1:g.78545C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_024921.4:c.1300C>A MANE Select | NP_079197.3:p.Gln434Lys |
| ENST00000262753.9:c.1300C>A MANE Select | ENSP00000262753.4:p.Gln434Lys |
| NM_001307940.1:c.1300C>A | NP_001294869.1:p.Gln434Lys |
| NM_001307940.2:c.1300C>A | NP_001294869.1:p.Gln434Lys |
| NM_024921.3:c.1300C>A | NP_079197.3:p.Gln434Lys |
| ENST00000262753.8:c.1300C>A | ENSP00000262753.4:p.Gln434Lys |
| ENST00000373145.3:c.1300C>A | ENSP00000362238.3:p.Gln434Lys |
| XM_005262203.2:c.1255C>A | XP_005262260.1:p.Gln419Lys |
| XM_005262203.4:c.1255C>A | XP_005262260.1:p.Gln419Lys |