Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.109767007C>T , CM000675.2:g.109767007C>T | GRCh38 |
| NC_000013.10:g.110419354C>T , CM000675.1:g.110419354C>T | GRCh37 |
| NC_000013.9:g.109217355C>T | NCBI36 |
| NG_008154.1:g.24561G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_003749.3:c.4013-10699G>A MANE Select | NP_003740.2:n.4013-10699G>A |
| ENST00000375856.5:c.4013-10699G>A MANE Select | ENSP00000365016.3:n.4013-10699G>A |
| NM_003749.2:c.4013-10699G>A | NP_003740.2:n.4013-10699G>A |
| ENST00000375856.4:c.4013-10699G>A | ENSP00000365016.3:n.4013-10699G>A |