Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.74339539C>A , CM000677.2:g.74339539C>A | GRCh38 |
| NC_000015.9:g.74631880C>A , CM000677.1:g.74631880C>A | GRCh37 |
| NC_000015.8:g.72418933C>A | NCBI36 |
| NG_007973.1:g.33203G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000268053.11:c.1157+48G>T MANE Select | ENSP00000268053.6:n.1157+48G>T | |
| ENST00000268053.10:c.1157+48G>T | ENSP00000268053.6:n.1157+48G>T | |
| ENST00000358632.8:c.683+48G>T | ENSP00000351455.4:n.683+48G>T | |
| ENST00000435365.5:c.1157+48G>T | ENSP00000391081.1:n.1157+48G>T | |
| NM_000781.2:c.1157+48G>T | NP_000772.2:n.1157+48G>T | |
| NM_001099773.1:c.683+48G>T | NP_001093243.1:n.683+48G>T | |
| NM_000781.3:c.1157+48G>T MANE Select | NP_000772.2:n.1157+48G>T | |
| NM_001099773.2:c.683+48G>T | NP_001093243.1:n.683+48G>T |