HGVS | Genome Assembly |
---|---|
NC_000012.12:g.111803888A>T , CM000674.2:g.111803888A>T | GRCh38 |
NC_000012.11:g.112241692A>T , CM000674.1:g.112241692A>T | GRCh37 |
NC_000012.10:g.110726075A>T | NCBI36 |
NG_012250.1:g.42347A>T | |
NG_012250.2:g.42002A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000261733.7:c.1436A>T MANE Select | ENSP00000261733.2:p.Gln479Leu | |
ENST00000261733.6:c.1436A>T | ENSP00000261733.2:p.Gln479Leu | |
ENST00000416293.7:c.1295A>T | ENSP00000403349.3:p.Gln432Leu | |
ENST00000548536.1:c.*1312A>T | ENSP00000448179.1:n.*1312A>T | |
ENST00000549106.1:c.367A>T | ||
NM_000690.3:c.1436A>T | NP_000681.2:p.Gln479Leu | |
NM_001204889.1:c.1295A>T | NP_001191818.1:p.Gln432Leu | |
NM_000690.4:c.1436A>T MANE Select | NP_000681.2:p.Gln479Leu | |
NM_001204889.2:c.1295A>T | NP_001191818.1:p.Gln432Leu |