HGVS | Genome Assembly |
---|---|
NC_000014.9:g.23375640G>C , CM000676.2:g.23375640G>C | GRCh38 |
NC_000014.8:g.23844849G>C , CM000676.1:g.23844849G>C | GRCh37 |
NC_000014.7:g.22914689G>C | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000397242.3:c.246G>C MANE Select | ENSP00000380417.2:p.Leu82Phe | |
ENST00000329715.2:c.294G>C | ENSP00000328111.2:p.Leu98Phe | |
ENST00000397242.2:c.246G>C | ENSP00000380417.2:p.Leu82Phe | |
NM_022789.3:c.294G>C | NP_073626.1:p.Leu98Phe | |
NM_172314.1:c.246G>C | NP_758525.1:p.Leu82Phe |