Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17719924C>A , CM000673.2:g.17719924C>A | GRCh38 |
| NC_000011.9:g.17741471C>A , CM000673.1:g.17741471C>A | GRCh37 |
| NC_000011.8:g.17698047C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002478.5:c.142C>A MANE Select | NP_002469.2:p.Pro48Thr |
| ENST00000250003.4:c.142C>A MANE Select | ENSP00000250003.3:p.Pro48Thr |
| NM_002478.4:c.142C>A | NP_002469.2:p.Pro48Thr |
| ENST00000250003.3:c.142C>A | ENSP00000250003.3:p.Pro48Thr |