Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.15889207G>A , CM000681.2:g.15889207G>A | GRCh38 |
| NC_000019.9:g.16000017G>A , CM000681.1:g.16000017G>A | GRCh37 |
| NC_000019.8:g.15861017G>A | NCBI36 |
| NG_007971.2:g.13868C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000221700.11:c.918+216C>T MANE Select | ENSP00000221700.3:n.918+216C>T | |
| ENST00000011989.11:c.918+216C>T | ENSP00000011989.8:n.918+216C>T | |
| ENST00000221700.10:c.918+216C>T | ENSP00000221700.3:n.918+216C>T | |
| ENST00000392846.7:n.861+216C>T | ||
| ENST00000587671.2:c.*503+216C>T | ENSP00000467443.2:n.*503+216C>T | |
| NM_001082.4:c.918+216C>T | NP_001073.3:n.918+216C>T | |
| NM_001082.5:c.918+216C>T MANE Select | NP_001073.3:n.918+216C>T |