Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.69193416G>A , CM000664.2:g.69193416G>A | GRCh38 |
| NC_000002.11:g.69420548G>A , CM000664.1:g.69420548G>A | GRCh37 |
| NC_000002.10:g.69274052G>A | NCBI36 |
| NG_012649.1:g.185273G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_032208.3:c.1434+1G>A MANE Select | NP_115584.1:n.1434+1G>A |
| ENST00000303714.9:c.1434+1G>A MANE Select | ENSP00000301945.4:n.1434+1G>A |
| NM_032208.2:c.1434+1G>A | NP_115584.1:n.1434+1G>A |
| ENST00000303714.8:c.1434+1G>A | ENSP00000301945.4:n.1434+1G>A |
| XM_011533124.1:c.1434+1G>A | XP_011531426.1:n.1434+1G>A |
| XR_939725.1:n.1581+1G>A |