HGVS | Genome Assembly |
---|---|
NC_000001.11:g.186673790C>T , CM000663.2:g.186673790C>T | GRCh38 |
NC_000001.10:g.186642922C>T , CM000663.1:g.186642922C>T | GRCh37 |
NC_000001.9:g.184909545C>T | NCBI36 |
NG_028206.2:g.11638G>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000367468.10:c.*563G>A MANE Select | ENSP00000356438.5:n.*563G>A | |
ENST00000680451.1:c.*563G>A | ENSP00000506242.1:n.*563G>A | |
ENST00000681605.1:c.*2050G>A | ENSP00000504900.1:n.*2050G>A | |
ENST00000367468.9:c.*563G>A | ENSP00000356438.5:n.*563G>A | |
ENST00000490885.6:n.2793G>A | ||
NM_000963.3:c.*563G>A | NP_000954.1:n.*563G>A | |
NM_000963.4:c.*563G>A MANE Select | NP_000954.1:n.*563G>A |