Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41583847C>G , CM000679.2:g.41583847C>G | GRCh38 |
| NC_000017.10:g.39740099C>G , CM000679.1:g.39740099C>G | GRCh37 |
| NC_000017.9:g.36993625C>G | NCBI36 |
| NG_008624.1:g.8049G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000167586.7:c.840G>C MANE Select | ENSP00000167586.6:p.Leu280= | |
| ENST00000167586.6:c.840G>C | ENSP00000167586.6:p.Leu280= | |
| ENST00000476662.1:n.290G>C | ||
| NM_000526.4:c.840G>C | NP_000517.2:p.Leu280= | |
| NM_000526.5:c.840G>C MANE Select | NP_000517.3:p.Leu280= |