Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.46853474A>G , CM000685.2:g.46853474A>G | GRCh38 |
| NC_000023.10:g.46712909A>G , CM000685.1:g.46712909A>G | GRCh37 |
| NC_000023.9:g.46597853A>G | NCBI36 |
| NG_009107.1:g.21563A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006915.3:c.103-2A>G MANE Select | NP_008846.2:n.103-2A>G |
| ENST00000218340.4:c.103-2A>G MANE Select | ENSP00000218340.3:n.103-2A>G |
| NM_006915.2:c.103-2A>G | NP_008846.2:n.103-2A>G |
| ENST00000218340.3:c.103-2A>G | ENSP00000218340.3:n.103-2A>G |