Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52676315T>C , CM000674.2:g.52676315T>C | GRCh38 |
| NC_000012.11:g.53070099T>C , CM000674.1:g.53070099T>C | GRCh37 |
| NC_000012.10:g.51356366T>C | NCBI36 |
| NG_008364.1:g.9093A>G | |
| NG_008364.2:g.9093A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006121.4:c.1435A>G MANE Select | NP_006112.3:p.Ile479Val |
| ENST00000252244.3:c.1435A>G MANE Select | ENSP00000252244.3:p.Ile479Val |
| NM_006121.3:c.1435A>G | NP_006112.3:p.Ile479Val |
| ENST00000548765.1:n.509A>G |