HGVS | Genome Assembly |
---|---|
NC_000019.10:g.40848335T= , CM000681.2:g.40848335T= | GRCh38 |
NC_000019.9:g.41354240T= , CM000681.1:g.41354240T= | GRCh37 |
NC_000019.8:g.46046080T= | NCBI36 |
NG_008377.1:g.7113A= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000301141.10:c.538A= MANE Select | ENSP00000301141.4:p.Asn180= | |
ENST00000301141.9:c.538A= | ENSP00000301141.4:p.Asn180= | |
ENST00000596719.5:n.389A= | ||
ENST00000600495.1:c.*350A= | ENSP00000472905.1:n.*350A= | |
ENST00000601627.1:c.120-43656T= | ||
ENST00000610301.1:c.538A= | ENSP00000477899.1:p.Asn180= | |
NM_000762.5:c.538A= | NP_000753.3:p.Asn180= | |
NM_000762.6:c.538A= MANE Select | NP_000753.3:p.Asn180= |