Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.34626316A>C , CM000679.2:g.34626316A>C | GRCh38 |
| NC_000017.10:g.32953335A>C , CM000679.1:g.32953335A>C | GRCh37 |
| NC_000017.9:g.29977448A>C | NCBI36 |
| NG_054730.1:g.50568A>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001304438.2:c.257A>C MANE Select | NP_001291367.1:p.Glu86Ala |
| ENST00000631683.2:c.257A>C MANE Select | ENSP00000487800.2:p.Glu86Ala |
| NM_001304438.1:c.257A>C | NP_001291367.1:p.Glu86Ala |
| ENST00000321639.6:c.257A>C | ENSP00000316532.5:p.Glu86Ala |
| ENST00000321639.7:c.257A>C | ENSP00000316532.5:p.Glu86Ala |
| ENST00000631683.1:c.257A>C | ENSP00000487800.1:p.Glu86Ala |
| XM_011524312.1:c.209A>C | XP_011522614.1:p.Glu70Ala |