HGVS | Genome Assembly |
---|---|
NC_000006.12:g.31859648G>T , CM000668.2:g.31859648G>T | GRCh38 |
NC_000006.11:g.31827425G>T , CM000668.1:g.31827425G>T | GRCh37 |
NC_000006.10:g.31935404G>T | NCBI36 |
NG_008201.1:g.8285C>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000375631.5:c.*71C>A MANE Select | ENSP00000364782.4:n.*71C>A | |
ENST00000677054.1:n.2658C>A | ||
ENST00000677512.1:n.1596C>A | ||
ENST00000678869.1:n.1907C>A | ||
ENST00000375631.4:c.*71C>A | ENSP00000364782.4:n.*71C>A | |
ENST00000480384.1:n.1618C>A | ||
ENST00000491768.5:c.*429C>A | ENSP00000433127.1:n.*429C>A | |
ENST00000495807.1:n.2627C>A | ||
NM_000434.3:c.*71C>A | NP_000425.1:n.*71C>A | |
NM_000434.4:c.*71C>A MANE Select | NP_000425.1:n.*71C>A |