Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.215998949G>A , CM000663.2:g.215998949G>A | GRCh38 |
| NC_000001.10:g.216172291G>A , CM000663.1:g.216172291G>A | GRCh37 |
| NC_000001.9:g.214238914G>A | NCBI36 |
| NG_009497.1:g.429448C>T | |
| NG_009497.2:g.429500C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307340.8:c.6595C>T MANE Select | ENSP00000305941.3:p.Leu2199Phe | |
| ENST00000674083.1:c.6595C>T | ENSP00000501296.1:p.Leu2199Phe | |
| ENST00000307340.7:c.6595C>T | ENSP00000305941.3:p.Leu2199Phe | |
| NM_206933.2:c.6595C>T | NP_996816.2:p.Leu2199Phe | |
| NM_206933.3:c.6595C>T | NP_996816.2:p.Leu2199Phe | |
| NM_206933.4:c.6595C>T MANE Select | NP_996816.3:p.Leu2199Phe |