HGVS | Genome Assembly |
---|---|
NC_000001.11:g.55039815C>T , CM000663.2:g.55039815C>T | GRCh38 |
NC_000001.10:g.55505488C>T , CM000663.1:g.55505488C>T | GRCh37 |
NC_000001.9:g.55278076C>T | NCBI36 |
NG_009061.1:g.5269C>T , LRG_275:g.5269C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000673913.2:c.-23C>T | ENSP00000501161.2:n.-23C>T | |
ENST00000710286.1:c.335C>T | ENSP00000518176.1:p.Thr112Ile | |
ENST00000673726.1:c.-23C>T | ENSP00000501004.1:n.-23C>T | |
ENST00000302118.5:c.-23C>T MANE Select | ENSP00000303208.5:n.-23C>T | |
NM_174936.3:c.-23C>T , LRG_275t1:c.-23C>T | NP_777596.2:n.-23C>T | |
NM_174936.4:c.-23C>T MANE Select | NP_777596.2:n.-23C>T |