HGVS | Genome Assembly |
---|---|
NC_000006.12:g.32220775G>C , CM000668.2:g.32220775G>C | GRCh38 |
NC_000006.11:g.32188552G>C , CM000668.1:g.32188552G>C | GRCh37 |
NC_000006.10:g.32296530G>C | NCBI36 |
NG_028190.1:g.8293C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000375023.3:c.903C>G MANE Select | ENSP00000364163.3:p.Leu301= | |
ENST00000473562.1:n.1032C>G | ||
NM_004557.3:c.903C>G | NP_004548.3:p.Leu301= | |
NR_134949.1:n.1042C>G | ||
NR_134950.1:n.1042C>G | ||
NM_004557.4:c.903C>G MANE Select | NP_004548.3:p.Leu301= | |
NR_134949.2:n.1042C>G | ||
NR_134950.2:n.1042C>G |