Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.15897114G>T , CM000681.2:g.15897114G>T | GRCh38 |
| NC_000019.9:g.16007924G>T , CM000681.1:g.16007924G>T | GRCh37 |
| NC_000019.8:g.15868924G>T | NCBI36 |
| NG_007971.2:g.5961C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000221700.11:c.198+300C>A MANE Select | ENSP00000221700.3:n.198+300C>A | |
| ENST00000011989.11:c.198+300C>A | ENSP00000011989.8:n.198+300C>A | |
| ENST00000221700.10:c.198+300C>A | ENSP00000221700.3:n.198+300C>A | |
| ENST00000392846.7:n.49+912C>A | ||
| ENST00000586927.2:c.198+300C>A | ENSP00000465514.1:n.198+300C>A | |
| ENST00000587671.2:c.198+300C>A | ENSP00000467443.2:n.198+300C>A | |
| ENST00000608168.1:n.251+300C>A | ||
| NM_001082.4:c.198+300C>A | NP_001073.3:n.198+300C>A | |
| NM_001082.5:c.198+300C>A MANE Select | NP_001073.3:n.198+300C>A |