Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23384948C>G , CM000676.2:g.23384948C>G | GRCh38 |
| NC_000014.8:g.23854157C>G , CM000676.1:g.23854157C>G | GRCh37 |
| NC_000014.7:g.22923997C>G | NCBI36 |
| NG_023444.1:g.28330G>C , LRG_389:g.28330G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000405093.9:c.5257G>C MANE Select | ENSP00000386041.3:p.Ala1753Pro | |
| ENST00000356287.3:c.5257G>C | ENSP00000348634.3:p.Ala1753Pro | |
| ENST00000405093.7:c.5257G>C | ENSP00000386041.3:p.Ala1753Pro | |
| NM_002471.3:c.5257G>C , LRG_389t1:c.5257G>C | NP_002462.2:p.Ala1753Pro | |
| NM_002471.4:c.5257G>C MANE Select | NP_002462.2:p.Ala1753Pro |