HGVS | Genome Assembly |
---|---|
NC_000011.10:g.116822732A>G , CM000673.2:g.116822732A>G | GRCh38 |
NC_000011.9:g.116693448A>G , CM000673.1:g.116693448A>G | GRCh37 |
NC_000011.8:g.116198658A>G | NCBI36 |
NG_012044.1:g.5564T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000357780.5:c.103T>C MANE Select | ENSP00000350425.3:p.Phe35Leu | |
ENST00000357780.4:c.103T>C | ENSP00000350425.3:p.Phe35Leu | |
NM_000482.3:c.103T>C | NP_000473.2:p.Phe35Leu | |
NM_000482.4:c.103T>C MANE Select | NP_000473.2:p.Phe35Leu |