HGVS | Genome Assembly |
---|---|
NC_000015.10:g.43067922C>T , CM000677.2:g.43067922C>T | GRCh38 |
NC_000015.9:g.43360120C>T , CM000677.1:g.43360120C>T | GRCh37 |
NC_000015.8:g.41147412C>T | NCBI36 |
NG_012182.1:g.43167G>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000290650.9:c.774G>A MANE Select | ENSP00000290650.4:p.Leu258= | |
ENST00000290650.8:c.774G>A | ENSP00000290650.4:p.Leu258= | |
ENST00000546274.6:c.774G>A | ENSP00000477932.1:p.Leu258= | |
ENST00000563239.1:c.*202+2977G>A | ENSP00000456502.1:n.*202+2977G>A | |
NM_174916.2:c.774G>A | NP_777576.1:p.Leu258= | |
NM_174916.3:c.774G>A MANE Select | NP_777576.1:p.Leu258= |