HGVS | Genome Assembly |
---|---|
NC_000006.12:g.31859669C>T , CM000668.2:g.31859669C>T | GRCh38 |
NC_000006.11:g.31827446C>T , CM000668.1:g.31827446C>T | GRCh37 |
NC_000006.10:g.31935425C>T | NCBI36 |
NG_008201.1:g.8264G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000375631.5:c.*50G>A MANE Select | ENSP00000364782.4:n.*50G>A | |
ENST00000677054.1:n.2637G>A | ||
ENST00000677512.1:n.1575G>A | ||
ENST00000678869.1:n.1886G>A | ||
ENST00000375631.4:c.*50G>A | ENSP00000364782.4:n.*50G>A | |
ENST00000480384.1:n.1597G>A | ||
ENST00000491768.5:c.*408G>A | ENSP00000433127.1:n.*408G>A | |
ENST00000495807.1:n.2606G>A | ||
NM_000434.3:c.*50G>A | NP_000425.1:n.*50G>A | |
NM_000434.4:c.*50G>A MANE Select | NP_000425.1:n.*50G>A |