Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.67436254A>C , CM000678.2:g.67436254A>C | GRCh38 |
| NC_000016.9:g.67470157A>C , CM000678.1:g.67470157A>C | GRCh37 |
| NC_000016.8:g.66027658A>C | NCBI36 |
| NG_011482.1:g.49933T>G | |
| NG_016549.1:g.10122A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000326152.6:c.670A>C MANE Select | ENSP00000316786.5:p.Met224Leu | |
| ENST00000326152.5:c.670A>C | ENSP00000316786.5:p.Met224Leu | |
| ENST00000567684.2:n.533A>C | ||
| NM_000196.3:c.670A>C | NP_000187.3:p.Met224Leu | |
| NM_000196.4:c.670A>C MANE Select | NP_000187.3:p.Met224Leu |