Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.69818761A>G , CM000673.2:g.69818761A>G | GRCh38 |
| NC_000011.9:g.69633529A>G , CM000673.1:g.69633529A>G | GRCh37 |
| NC_000011.8:g.69342466A>G | NCBI36 |
| NG_009016.1:g.5664T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005247.4:c.173T>C MANE Select | NP_005238.1:p.Leu58Pro |
| ENST00000334134.4:c.173T>C MANE Select | ENSP00000334122.2:p.Leu58Pro |
| NM_005247.2:c.173T>C | NP_005238.1:p.Leu58Pro |
| NM_005247.3:c.173T>C | NP_005238.1:p.Leu58Pro |
| ENST00000334134.2:c.173T>C | ENSP00000334122.2:p.Leu58Pro |