Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.47373627T>C , CM000664.2:g.47373627T>C | GRCh38 |
| NC_000002.11:g.47600766T>C , CM000664.1:g.47600766T>C | GRCh37 |
| NC_000002.10:g.47454270T>C | NCBI36 |
| NG_012352.2:g.33465T>C , LRG_215:g.33465T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002354.3:c.184+57T>C MANE Select | NP_002345.2:n.184+57T>C |
| ENST00000263735.9:c.184+57T>C MANE Select | ENSP00000263735.4:n.184+57T>C |
| NM_002354.2:c.184+57T>C , LRG_215t1:c.184+57T>C | NP_002345.2:n.184+57T>C |
| ENST00000263735.8:c.184+57T>C | ENSP00000263735.4:n.184+57T>C |
| ENST00000405271.5:c.268+57T>C | ENSP00000385476.1:n.268+57T>C |
| ENST00000419334.1:c.412+57T>C | ENSP00000389028.1:n.412+57T>C |
| ENST00000456133.5:c.268+57T>C | ENSP00000410675.1:n.268+57T>C |
| ENST00000474691.1:n.272T>C |