HGVS | Genome Assembly |
---|---|
NC_000019.10:g.47834555C= , CM000681.2:g.47834555C= | GRCh38 |
NC_000019.9:g.48337812C= , CM000681.1:g.48337812C= | GRCh37 |
NC_000019.8:g.53029624C= | NCBI36 |
NG_008605.1:g.17714C= |
HGVS | Amino-acid change | |
---|---|---|
ENST00000221996.12:c.100+12C= MANE Select | ENSP00000221996.5:n.100+12C= | |
ENST00000221996.11:c.100+12C= | ENSP00000221996.5:n.100+12C= | |
ENST00000539067.5:c.100+12C= | ENSP00000445565.1:n.100+12C= | |
ENST00000556527.1:n.78-1688C= | ||
ENST00000566686.5:c.100+12C= | ENSP00000457808.2:n.100+12C= | |
ENST00000613299.1:c.100+12C= | ENSP00000478106.1:n.100+12C= | |
NM_000554.4:c.100+12C= | NP_000545.1:n.100+12C= | |
NM_000554.5:c.100+12C= | NP_000545.1:n.100+12C= | |
NM_000554.6:c.100+12C= MANE Select | NP_000545.1:n.100+12C= |