HGVS | Genome Assembly |
---|---|
NC_000019.10:g.17818121T= , CM000681.2:g.17818121T= | GRCh38 |
NC_000019.9:g.17928930T= , CM000681.1:g.17928930T= | GRCh37 |
NC_000019.8:g.17789930T= | NCBI36 |
NG_012092.1:g.8391A= |
HGVS | Amino-acid change | |
---|---|---|
ENST00000317306.8:c.191-1062A= MANE Select | ENSP00000321724.6:n.191-1062A= | |
ENST00000317306.7:c.191-1062A= | ENSP00000321724.6:n.191-1062A= | |
ENST00000379695.5:c.286-1062A= | ENSP00000369017.4:n.286-1062A= | |
ENST00000598577.1:c.190-1040A= | ||
NM_001265587.1:c.286-1062A= | NP_001252516.1:n.286-1062A= | |
NM_005543.3:c.191-1062A= | NP_005534.2:n.191-1062A= | |
NM_001265587.2:c.286-1062A= | NP_001252516.1:n.286-1062A= | |
NM_005543.4:c.191-1062A= MANE Select | NP_005534.2:n.191-1062A= |