Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.135922829T>G , CM000664.2:g.135922829T>G | GRCh38 |
| NC_000002.11:g.136680399T>G , CM000664.1:g.136680399T>G | GRCh37 |
| NC_000002.10:g.136396869T>G | NCBI36 |
| NG_034149.1:g.67856A>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001349.4:c.766A>C MANE Select | NP_001340.2:p.Met256Leu |
| ENST00000264161.9:c.766A>C MANE Select | ENSP00000264161.4:p.Met256Leu |
| NM_001293312.1:c.466A>C | NP_001280241.1:p.Met156Leu |
| NM_001349.3:c.766A>C | NP_001340.2:p.Met256Leu |
| ENST00000264161.8:c.766A>C | ENSP00000264161.4:p.Met256Leu |