Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.34285875G= , CM000679.2:g.34285875G= | GRCh38 |
| NC_000017.10:g.32612894G= , CM000679.1:g.32612894G= | GRCh37 |
| NC_000017.9:g.29637007G= | NCBI36 |
| NG_012212.1:g.5208G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002986.3:c.67G= MANE Select | NP_002977.1:p.Ala23= |
| ENST00000305869.4:c.67G= MANE Select | ENSP00000302234.3:p.Ala23= |
| NM_002986.2:c.67G= | NP_002977.1:p.Ala23= |
| ENST00000305869.3:c.67G= | ENSP00000302234.3:p.Ala23= |