HGVS | Genome Assembly |
---|---|
NC_000015.10:g.43067922C>G , CM000677.2:g.43067922C>G | GRCh38 |
NC_000015.9:g.43360120C>G , CM000677.1:g.43360120C>G | GRCh37 |
NC_000015.8:g.41147412C>G | NCBI36 |
NG_012182.1:g.43167G>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000290650.9:c.774G>C MANE Select | ENSP00000290650.4:p.Leu258Phe | |
ENST00000290650.8:c.774G>C | ENSP00000290650.4:p.Leu258Phe | |
ENST00000546274.6:c.774G>C | ENSP00000477932.1:p.Leu258Phe | |
ENST00000563239.1:c.*202+2977G>C | ENSP00000456502.1:n.*202+2977G>C | |
NM_174916.2:c.774G>C | NP_777576.1:p.Leu258Phe | |
NM_174916.3:c.774G>C MANE Select | NP_777576.1:p.Leu258Phe |