Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.149960980G>A , CM000667.2:g.149960980G>A | GRCh38 |
| NC_000005.9:g.149340543G>A , CM000667.1:g.149340543G>A | GRCh37 |
| NC_000005.8:g.149320736G>A | NCBI36 |
| NG_007147.2:g.2098G>A , LRG_684:g.2098G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000112.4:c.-26+1G>A MANE Select | NP_000103.2:n.-26+1G>A |
| ENST00000286298.5:c.-26+1G>A MANE Select | ENSP00000286298.4:n.-26+1G>A |
| NM_000112.3:c.-26+1G>A , LRG_684t1:c.-26+1G>A | NP_000103.2:n.-26+1G>A |
| ENST00000286298.4:c.-26+1G>A | ENSP00000286298.4:n.-26+1G>A |
| ENST00000433184.1:c.-306+1G>A | ENSP00000405496.1:n.-306+1G>A |
| ENST00000690410.1:n.207+1G>A | |
| XM_017009191.2:c.-26+1G>A | XP_016864680.1:n.-26+1G>A |