Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.31393802T>C , CM000676.2:g.31393802T>C | GRCh38 |
| NC_000014.8:g.31863008T>C , CM000676.1:g.31863008T>C | GRCh37 |
| NC_000014.7:g.30932759T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000543095.7:c.772+250A>G MANE Select | ENSP00000437968.2:n.772+250A>G | |
| ENST00000543095.6:c.772+250A>G | ENSP00000437968.2:n.772+250A>G | |
| ENST00000549185.5:c.*868+250A>G | ENSP00000446654.1:n.*868+250A>G | |
| NM_015473.3:c.772+250A>G | NP_056288.2:n.772+250A>G | |
| NM_015473.4:c.772+250A>G MANE Select | NP_056288.2:n.772+250A>G |