Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240873051T>G , CM000664.2:g.240873051T>G | GRCh38 |
| NC_000002.11:g.241812468T>G , CM000664.1:g.241812468T>G | GRCh37 |
| NC_000002.10:g.241461141T>G | NCBI36 |
| NG_008005.1:g.9307T>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000030.3:c.595+2T>G MANE Select | NP_000021.1:n.595+2T>G |
| ENST00000307503.4:c.595+2T>G MANE Select | ENSP00000302620.3:n.595+2T>G |
| NM_000030.2:c.595+2T>G | NP_000021.1:n.595+2T>G |
| ENST00000307503.3:c.595+2T>G | ENSP00000302620.3:n.595+2T>G |
| ENST00000472436.1:n.617T>G | |
| ENST00000476698.1:n.332+2T>G |