Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.34285875G>A , CM000679.2:g.34285875G>A | GRCh38 |
| NC_000017.10:g.32612894G>A , CM000679.1:g.32612894G>A | GRCh37 |
| NC_000017.9:g.29637007G>A | NCBI36 |
| NG_012212.1:g.5208G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002986.3:c.67G>A MANE Select | NP_002977.1:p.Ala23Thr |
| ENST00000305869.4:c.67G>A MANE Select | ENSP00000302234.3:p.Ala23Thr |
| NM_002986.2:c.67G>A | NP_002977.1:p.Ala23Thr |
| ENST00000305869.3:c.67G>A | ENSP00000302234.3:p.Ala23Thr |