HGVS | Genome Assembly |
---|---|
NC_000019.10:g.7533932C= , CM000681.2:g.7533932C= | GRCh38 |
NC_000019.9:g.7598818C= , CM000681.1:g.7598818C= | GRCh37 |
NC_000019.8:g.7504818C= | NCBI36 |
NG_013374.1:g.4781C= | |
NG_015806.1:g.16323C= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000264079.11:c.*137C= MANE Select | ENSP00000264079.5:n.*137C= | |
ENST00000264079.10:c.*137C= | ENSP00000264079.5:n.*137C= | |
ENST00000394321.9:n.2195C= | ||
ENST00000599334.1:c.608C= | ||
ENST00000601870.1:c.169+64C= | ||
ENST00000602227.1:n.434C= | ||
NM_020533.2:c.*137C= | NP_065394.1:n.*137C= | |
NM_020533.3:c.*137C= MANE Select | NP_065394.1:n.*137C= |