HGVS | Genome Assembly |
---|---|
NC_000017.11:g.34255434C= , CM000679.2:g.34255434C= | GRCh38 |
NC_000017.10:g.32582453C= , CM000679.1:g.32582453C= | GRCh37 |
NC_000017.9:g.29606566C= | NCBI36 |
NG_012123.1:g.5158C= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000580907.6:c.76+9C= | ENSP00000462156.1:n.76+9C= | |
ENST00000624362.2:n.150C= | ||
ENST00000225831.4:c.76+9C= MANE Select | ENSP00000225831.4:n.76+9C= | |
ENST00000580907.5:c.76+9C= | ENSP00000462156.1:n.76+9C= | |
ENST00000624362.1:n.217C= | ||
NM_002982.3:c.76+9C= | NP_002973.1:n.76+9C= | |
NM_002982.4:c.76+9C= MANE Select | NP_002973.1:n.76+9C= |