Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.16591824G>A , CM000684.2:g.16591824G>A | GRCh38 |
| NC_000022.10:g.17072714G>A , CM000684.1:g.17072714G>A | GRCh37 |
| NC_000022.9:g.15452714G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_014406.5:c.727C>T MANE Select | NP_055221.1:p.Leu243Phe |
| ENST00000359963.4:c.727C>T MANE Select | ENSP00000353048.3:p.Leu243Phe |
| NM_014406.4:c.727C>T | NP_055221.1:p.Leu243Phe |