Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.150143335C>A , CM000668.2:g.150143335C>A | GRCh38 |
| NC_000006.11:g.150464471C>A , CM000668.1:g.150464471C>A | GRCh37 |
| NC_000006.10:g.150506164C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_030949.3:c.143C>A MANE Select | NP_112211.1:p.Ala48Glu |
| ENST00000361131.5:c.143C>A MANE Select | ENSP00000355260.4:p.Ala48Glu |
| NM_030949.2:c.143C>A | NP_112211.1:p.Ala48Glu |
| ENST00000361131.4:c.143C>A | ENSP00000355260.4:p.Ala48Glu |