Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.68156438G>C , CM000674.2:g.68156438G>C | GRCh38 |
| NC_000012.11:g.68550218G>C , CM000674.1:g.68550218G>C | GRCh37 |
| NC_000012.10:g.66836485G>C | NCBI36 |
| NG_015840.1:g.8304C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000229135.4:c.367-951C>G MANE Select | ENSP00000229135.3:n.367-951C>G | |
| ENST00000229135.3:c.367-951C>G | ENSP00000229135.3:n.367-951C>G | |
| NM_000619.2:c.367-951C>G | NP_000610.2:n.367-951C>G | |
| NM_000619.3:c.367-951C>G MANE Select | NP_000610.2:n.367-951C>G |