HGVS | Genome Assembly |
---|---|
NC_000012.12:g.63146629G>T , CM000674.2:g.63146629G>T | GRCh38 |
NC_000012.11:g.63540409G>T , CM000674.1:g.63540409G>T | GRCh37 |
NC_000012.10:g.61826676G>T | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000299178.4:c.*730C>A MANE Select | ENSP00000299178.3:n.*730C>A | |
ENST00000299178.3:c.*730C>A | ENSP00000299178.2:n.*730C>A | |
ENST00000550940.1:c.538+792C>A | ENSP00000449822.1:n.538+792C>A | |
NM_000706.4:c.*730C>A | NP_000697.1:n.*730C>A | |
XM_005269002.3:c.*730C>A | XP_005269059.1:n.*730C>A | |
NM_000706.5:c.*730C>A MANE Select | NP_000697.1:n.*730C>A |