HGVS | Genome Assembly |
---|---|
NC_000001.11:g.186673847T>C , CM000663.2:g.186673847T>C | GRCh38 |
NC_000001.10:g.186642979T>C , CM000663.1:g.186642979T>C | GRCh37 |
NC_000001.9:g.184909602T>C | NCBI36 |
NG_028206.2:g.11581A>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000367468.10:c.*506A>G MANE Select | ENSP00000356438.5:n.*506A>G | |
ENST00000680451.1:c.*506A>G | ENSP00000506242.1:n.*506A>G | |
ENST00000681605.1:c.*1993A>G | ENSP00000504900.1:n.*1993A>G | |
ENST00000367468.9:c.*506A>G | ENSP00000356438.5:n.*506A>G | |
ENST00000490885.6:n.2736A>G | ||
NM_000963.3:c.*506A>G | NP_000954.1:n.*506A>G | |
NM_000963.4:c.*506A>G MANE Select | NP_000954.1:n.*506A>G |