HGVS | Genome Assembly |
---|---|
NC_000019.10:g.7533657C= , CM000681.2:g.7533657C= | GRCh38 |
NC_000019.9:g.7598543C= , CM000681.1:g.7598543C= | GRCh37 |
NC_000019.8:g.7504543C= | NCBI36 |
NG_013374.1:g.4506C= | |
NG_015806.1:g.16048C= |
HGVS | Amino-acid change | |
---|---|---|
ENST00000264079.11:c.1706+4C= MANE Select | ENSP00000264079.5:n.1706+4C= | |
ENST00000264079.10:c.1706+4C= | ENSP00000264079.5:n.1706+4C= | |
ENST00000394321.9:n.2021+4C= | ||
ENST00000599334.1:c.434+4C= | ||
ENST00000601870.1:c.59+4C= | ||
ENST00000602227.1:n.260+4C= | ||
NM_020533.2:c.1706+4C= | NP_065394.1:n.1706+4C= | |
NM_020533.3:c.1706+4C= MANE Select | NP_065394.1:n.1706+4C= |