Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.42732009A>C , CM000670.2:g.42732009A>C | GRCh38 |
| NC_000008.10:g.42587152A>C , CM000670.1:g.42587152A>C | GRCh37 |
| NC_000008.9:g.42706309A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000749.5:c.702A>C MANE Select | NP_000740.1:p.Leu234Phe |
| ENST00000289957.3:c.702A>C MANE Select | ENSP00000289957.2:p.Leu234Phe |
| NM_000749.3:c.702A>C | NP_000740.1:p.Leu234Phe |
| NM_000749.4:c.702A>C | NP_000740.1:p.Leu234Phe |
| NM_001347717.1:c.480A>C | NP_001334646.1:p.Leu160Phe |
| NM_001347717.2:c.480A>C | NP_001334646.1:p.Leu160Phe |
| ENST00000289957.2:c.702A>C | ENSP00000289957.2:p.Leu234Phe |
| XM_011544390.1:c.315A>C | XP_011542692.1:p.Leu105Phe |
| XM_011544390.2:c.315A>C | XP_011542692.1:p.Leu105Phe |