Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52676293A>C , CM000674.2:g.52676293A>C | GRCh38 |
| NC_000012.11:g.53070077A>C , CM000674.1:g.53070077A>C | GRCh37 |
| NC_000012.10:g.51356344A>C | NCBI36 |
| NG_008364.1:g.9115T>G | |
| NG_008364.2:g.9115T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252244.3:c.1457T>G MANE Select | ENSP00000252244.3:p.Leu486Arg | |
| ENST00000548765.1:n.531T>G | ||
| NM_006121.3:c.1457T>G | NP_006112.3:p.Leu486Arg | |
| NM_006121.4:c.1457T>G MANE Select | NP_006112.3:p.Leu486Arg |