Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.68156402C>G , CM000674.2:g.68156402C>G | GRCh38 |
| NC_000012.11:g.68550182C>G , CM000674.1:g.68550182C>G | GRCh37 |
| NC_000012.10:g.66836449C>G | NCBI36 |
| NG_015840.1:g.8340G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000229135.4:c.367-915G>C MANE Select | ENSP00000229135.3:n.367-915G>C | |
| ENST00000229135.3:c.367-915G>C | ENSP00000229135.3:n.367-915G>C | |
| NM_000619.2:c.367-915G>C | NP_000610.2:n.367-915G>C | |
| NM_000619.3:c.367-915G>C MANE Select | NP_000610.2:n.367-915G>C |