Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.35830843C>T , CM000681.2:g.35830843C>T | GRCh38 |
| NC_000019.9:g.36321745C>T , CM000681.1:g.36321745C>T | GRCh37 |
| NC_000019.8:g.41013585C>T | NCBI36 |
| NG_013356.2:g.43445G>A , LRG_693:g.43445G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004646.4:c.3594+1G>A MANE Select | NP_004637.1:n.3594+1G>A |
| ENST00000378910.10:c.3594+1G>A MANE Select | ENSP00000368190.4:n.3594+1G>A |
| NM_004646.3:c.3594+1G>A , LRG_693t1:c.3594+1G>A | NP_004637.1:n.3594+1G>A |
| ENST00000353632.6:c.3474+1G>A | ENSP00000343634.5:n.3474+1G>A |
| ENST00000378910.9:c.3594+1G>A | ENSP00000368190.4:n.3594+1G>A |