Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52679790G>C , CM000674.2:g.52679790G>C | GRCh38 |
| NC_000012.11:g.53073574G>C , CM000674.1:g.53073574G>C | GRCh37 |
| NC_000012.10:g.51359841G>C | NCBI36 |
| NG_008364.1:g.5618C>G | |
| NG_008364.2:g.5618C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006121.4:c.559C>G MANE Select | NP_006112.3:p.Leu187Val |
| ENST00000252244.3:c.559C>G MANE Select | ENSP00000252244.3:p.Leu187Val |
| NM_006121.3:c.559C>G | NP_006112.3:p.Leu187Val |