Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240873050G>A , CM000664.2:g.240873050G>A | GRCh38 |
| NC_000002.11:g.241812467G>A , CM000664.1:g.241812467G>A | GRCh37 |
| NC_000002.10:g.241461140G>A | NCBI36 |
| NG_008005.1:g.9306G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000030.3:c.595+1G>A MANE Select | NP_000021.1:n.595+1G>A |
| ENST00000307503.4:c.595+1G>A MANE Select | ENSP00000302620.3:n.595+1G>A |
| NM_000030.2:c.595+1G>A | NP_000021.1:n.595+1G>A |
| ENST00000307503.3:c.595+1G>A | ENSP00000302620.3:n.595+1G>A |
| ENST00000472436.1:n.616G>A | |
| ENST00000476698.1:n.332+1G>A |