Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.3154234T>G , CM000668.2:g.3154234T>G | GRCh38 |
| NC_000006.11:g.3154468T>G , CM000668.1:g.3154468T>G | GRCh37 |
| NC_000006.10:g.3099467T>G | NCBI36 |
| NG_042223.1:g.8316A>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001069.3:c.967A>C MANE Select | NP_001060.1:p.Met323Leu |
| ENST00000333628.4:c.967A>C MANE Select | ENSP00000369703.2:p.Met323Leu |
| NM_001069.2:c.967A>C | NP_001060.1:p.Met323Leu |
| NM_001310315.1:c.712A>C | NP_001297244.1:p.Met238Leu |
| NM_001310315.2:c.712A>C | NP_001297244.1:p.Met238Leu |
| ENST00000333628.3:c.967A>C | ENSP00000369703.2:p.Met323Leu |
| ENST00000679400.1:n.1023A>C | |
| ENST00000679907.1:n.1355A>C | |
| ENST00000680036.1:n.1749A>C | |
| ENST00000680967.1:n.2057A>C |