HGVS | Genome Assembly |
---|---|
NC_000016.10:g.56609465A>G , CM000678.2:g.56609465A>G | GRCh38 |
NC_000016.9:g.56643377A>G , CM000678.1:g.56643377A>G | GRCh37 |
NC_000016.8:g.55200878A>G | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000245185.6:c.*111A>G MANE Select | ENSP00000245185.5:n.*111A>G | |
ENST00000245185.5:c.*111A>G | ENSP00000245185.5:n.*111A>G | |
ENST00000561491.1:c.*280A>G | ENSP00000456804.1:n.*280A>G | |
ENST00000562017.1:n.871A>G | ||
ENST00000563985.1:n.677A>G | ||
ENST00000567300.1:n.384A>G | ||
NM_005953.3:c.*111A>G | NP_005944.1:n.*111A>G | |
XR_933616.1:n.1025T>C | ||
NM_005953.4:c.*111A>G | NP_005944.1:n.*111A>G | |
NM_005953.5:c.*111A>G MANE Select | NP_005944.1:n.*111A>G |