Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.113074756C>A , CM000664.2:g.113074756C>A | GRCh38 |
| NC_000002.11:g.113832333C>A , CM000664.1:g.113832333C>A | GRCh37 |
| NC_000002.10:g.113548804C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_173161.3:c.152C>A MANE Select | NP_775184.1:p.Ala51Asp |
| ENST00000341010.6:c.152C>A MANE Select | ENSP00000341794.2:p.Ala51Asp |
| NM_032556.5:c.152C>A | NP_115945.4:p.Ala51Asp |
| NM_032556.6:c.152C>A | NP_115945.4:p.Ala51Asp |
| NM_173161.2:c.152C>A | NP_775184.1:p.Ala51Asp |
| ENST00000393197.2:c.152C>A | ENSP00000376893.2:p.Ala51Asp |
| ENST00000393197.3:c.152C>A | ENSP00000376893.2:p.Ala51Asp |
| ENST00000496265.1:n.218C>A |