HGVS | Genome Assembly |
---|---|
NC_000001.11:g.186673840G>A , CM000663.2:g.186673840G>A | GRCh38 |
NC_000001.10:g.186642972G>A , CM000663.1:g.186642972G>A | GRCh37 |
NC_000001.9:g.184909595G>A | NCBI36 |
NG_028206.2:g.11588C>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000367468.10:c.*513C>T MANE Select | ENSP00000356438.5:n.*513C>T | |
ENST00000680451.1:c.*513C>T | ENSP00000506242.1:n.*513C>T | |
ENST00000681605.1:c.*2000C>T | ENSP00000504900.1:n.*2000C>T | |
ENST00000367468.9:c.*513C>T | ENSP00000356438.5:n.*513C>T | |
ENST00000490885.6:n.2743C>T | ||
NM_000963.3:c.*513C>T | NP_000954.1:n.*513C>T | |
NM_000963.4:c.*513C>T MANE Select | NP_000954.1:n.*513C>T |