Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.81444912T>G , CM000670.2:g.81444912T>G | GRCh38 |
| NC_000008.10:g.82357147T>G , CM000670.1:g.82357147T>G | GRCh37 |
| NC_000008.9:g.82519702T>G | NCBI36 |
| NG_052979.1:g.7612A>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002677.5:c.151A>C MANE Select | NP_002668.1:p.Thr51Pro |
| ENST00000256103.3:c.151A>C MANE Select | ENSP00000256103.2:p.Thr51Pro |
| NM_001348381.1:c.74-311A>C | NP_001335310.1:n.74-311A>C |
| NM_001348381.2:c.74-311A>C | NP_001335310.1:n.74-311A>C |
| NM_002677.3:c.151A>C | NP_002668.1:p.Thr51Pro |
| NM_002677.4:c.151A>C | NP_002668.1:p.Thr51Pro |
| ENST00000256103.2:c.151A>C | ENSP00000256103.2:p.Thr51Pro |
| ENST00000519260.1:c.74-311A>C | ENSP00000429917.1:n.74-311A>C |