Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.72866285G>A , CM000670.2:g.72866285G>A | GRCh38 |
| NC_000008.10:g.73778520G>A , CM000670.1:g.73778520G>A | GRCh37 |
| NC_000008.9:g.73941074G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000523207.2:c.580-69650G>A MANE Select | ENSP00000430846.1:n.580-69650G>A | |
| ENST00000523207.1:c.580-69650G>A | ENSP00000430846.1:n.580-69650G>A | |
| NM_004770.2:c.580-69650G>A | NP_004761.2:n.580-69650G>A | |
| XM_017013981.1:c.-157+2581G>A | XP_016869470.1:n.-157+2581G>A | |
| XR_001745620.1:n.1141-69650G>A | ||
| XR_001745621.1:n.1141-69650G>A | ||
| NM_004770.3:c.580-69650G>A MANE Select | NP_004761.2:n.580-69650G>A |