HGVS | Genome Assembly |
---|---|
NC_000008.11:g.30786118C>A , CM000670.2:g.30786118C>A | GRCh38 |
NC_000008.10:g.30643634C>A , CM000670.1:g.30643634C>A | GRCh37 |
NC_000008.9:g.30763176C>A | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000221138.9:c.*117G>T MANE Select | ENSP00000221138.4:n.*117G>T | |
ENST00000221138.8:c.*117G>T | ENSP00000221138.4:n.*117G>T | |
ENST00000518532.1:n.557G>T | ||
ENST00000518564.1:c.142-129G>T | ENSP00000428142.1:n.142-129G>T | |
ENST00000523023.1:c.181+93G>T | ||
NM_001009552.1:c.*117G>T | NP_001009552.1:n.*117G>T | |
NM_001009552.2:c.*117G>T MANE Select | NP_001009552.1:n.*117G>T |