Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41586445C>G , CM000679.2:g.41586445C>G | GRCh38 |
| NC_000017.10:g.39742697C>G , CM000679.1:g.39742697C>G | GRCh37 |
| NC_000017.9:g.36996223C>G | NCBI36 |
| NG_008624.1:g.5451G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000167586.7:c.390G>C MANE Select | ENSP00000167586.6:p.Leu130= | |
| ENST00000167586.6:c.390G>C | ENSP00000167586.6:p.Leu130= | |
| NM_000526.4:c.390G>C | NP_000517.2:p.Leu130= | |
| NM_000526.5:c.390G>C MANE Select | NP_000517.3:p.Leu130= |