Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.48892074T>C , CM000665.2:g.48892074T>C | GRCh38 |
| NC_000003.11:g.48929507T>C , CM000665.1:g.48929507T>C | GRCh37 |
| NC_000003.10:g.48904511T>C | NCBI36 |
| NG_008171.1:g.11823A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000387.6:c.106-2A>G MANE Select | NP_000378.1:n.106-2A>G |
| ENST00000319017.5:c.106-2A>G MANE Select | ENSP00000326305.4:n.106-2A>G |
| NM_000387.5:c.106-2A>G | NP_000378.1:n.106-2A>G |
| ENST00000319017.4:c.106-2A>G | ENSP00000326305.4:n.106-2A>G |
| ENST00000430379.5:c.106-2A>G | ENSP00000388986.1:n.106-2A>G |
| ENST00000440964.1:c.167-2A>G | ENSP00000388563.1:n.167-2A>G |
| XM_006713327.1:c.106-2A>G | XP_006713390.1:n.106-2A>G |