HGVS | Genome Assembly |
---|---|
NC_000019.10:g.15879565G= , CM000681.2:g.15879565G= | GRCh38 |
NC_000019.9:g.15990375G= , CM000681.1:g.15990375G= | GRCh37 |
NC_000019.8:g.15851375G= | NCBI36 |
NG_007971.2:g.23510C= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000221700.11:c.1314+39C= MANE Select | ENSP00000221700.3:n.1314+39C= | |
ENST00000011989.11:c.1314+39C= | ENSP00000011989.8:n.1314+39C= | |
ENST00000221700.10:c.1314+39C= | ENSP00000221700.3:n.1314+39C= | |
ENST00000392846.7:n.1257+39C= | ||
ENST00000589654.2:c.103-137C= | ||
NM_001082.4:c.1314+39C= | NP_001073.3:n.1314+39C= | |
NM_001082.5:c.1314+39C= MANE Select | NP_001073.3:n.1314+39C= |