HGVS | Genome Assembly |
---|---|
NC_000012.12:g.111803868C>A , CM000674.2:g.111803868C>A | GRCh38 |
NC_000012.11:g.112241672C>A , CM000674.1:g.112241672C>A | GRCh37 |
NC_000012.10:g.110726055C>A | NCBI36 |
NG_012250.1:g.42327C>A | |
NG_012250.2:g.41982C>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000261733.7:c.1416C>A MANE Select | ENSP00000261733.2:p.Cys472Ter | |
ENST00000261733.6:c.1416C>A | ENSP00000261733.2:p.Cys472Ter | |
ENST00000416293.7:c.1275C>A | ENSP00000403349.3:p.Cys425Ter | |
ENST00000548536.1:c.*1292C>A | ENSP00000448179.1:n.*1292C>A | |
ENST00000549106.1:c.347C>A | ||
NM_000690.3:c.1416C>A | NP_000681.2:p.Cys472Ter | |
NM_001204889.1:c.1275C>A | NP_001191818.1:p.Cys425Ter | |
NM_000690.4:c.1416C>A MANE Select | NP_000681.2:p.Cys472Ter | |
NM_001204889.2:c.1275C>A | NP_001191818.1:p.Cys425Ter |