Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.86954662G>A , CM000673.2:g.86954662G>A | GRCh38 |
| NC_000011.9:g.86665704G>A , CM000673.1:g.86665704G>A | GRCh37 |
| NC_000011.8:g.86343352G>A | NCBI36 |
| NG_011752.1:g.5730C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000531380.2:c.285+139C>T MANE Select | ENSP00000434034.1:n.285+139C>T | |
| ENST00000531380.1:c.285+139C>T | ENSP00000434034.1:n.285+139C>T | |
| NM_012193.3:c.285+139C>T | NP_036325.2:n.285+139C>T | |
| NM_012193.4:c.285+139C>T MANE Select | NP_036325.2:n.285+139C>T |