Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.32050021T>C , CM000684.2:g.32050021T>C | GRCh38 |
| NC_000022.10:g.32446008T>C , CM000684.1:g.32446008T>C | GRCh37 |
| NC_000022.9:g.30776008T>C | NCBI36 |
| NG_017045.1:g.11990T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000266088.9:c.207+7T>C MANE Select | ENSP00000266088.4:n.207+7T>C | |
| ENST00000266088.8:c.207+7T>C | ENSP00000266088.4:n.207+7T>C | |
| NM_000343.3:c.207+7T>C | NP_000334.1:n.207+7T>C | |
| XM_011530331.1:c.207+7T>C | XP_011528633.1:n.207+7T>C | |
| NM_000343.4:c.207+7T>C MANE Select | NP_000334.1:n.207+7T>C |