HGVS | Genome Assembly |
---|---|
NC_000006.12:g.31861415C>A , CM000668.2:g.31861415C>A | GRCh38 |
NC_000006.11:g.31829192C>A , CM000668.1:g.31829192C>A | GRCh37 |
NC_000006.10:g.31937171C>A | NCBI36 |
NG_008201.1:g.6518G>T | |
NG_023058.1:g.22632G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000375631.5:c.388G>T MANE Select | ENSP00000364782.4:p.Asp130Tyr | |
ENST00000677054.1:n.1065G>T | ||
ENST00000677512.1:n.496G>T | ||
ENST00000678869.1:n.496G>T | ||
ENST00000375631.4:c.388G>T | ENSP00000364782.4:p.Asp130Tyr | |
ENST00000480384.1:n.417G>T | ||
ENST00000491768.5:c.388G>T | ENSP00000433127.1:p.Asp130Tyr | |
ENST00000495807.1:n.956G>T | ||
NM_000434.3:c.388G>T | NP_000425.1:p.Asp130Tyr | |
NM_000434.4:c.388G>T MANE Select | NP_000425.1:p.Asp130Tyr |