Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.102869188G>A , CM000666.2:g.102869188G>A | GRCh38 |
| NC_000004.11:g.103790345G>A , CM000666.1:g.103790345G>A | GRCh37 |
| NC_000004.10:g.104009786G>A | NCBI36 |
| NG_008636.2:g.5211G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001008388.5:c.103+1G>A MANE Select | NP_001008389.1:n.103+1G>A |
| ENST00000273986.10:c.103+1G>A MANE Select | ENSP00000273986.4:n.103+1G>A |
| NM_001008388.4:c.103+1G>A | NP_001008389.1:n.103+1G>A |
| ENST00000273986.8:c.103+1G>A | ENSP00000273986.4:n.103+1G>A |
| ENST00000574446.1:c.103+1G>A | ENSP00000458976.1:n.103+1G>A |
| ENST00000646632.1:c.103+1G>A | ENSP00000494257.1:n.103+1G>A |