HGVS | Genome Assembly |
---|---|
NC_000019.10:g.17818114C>T , CM000681.2:g.17818114C>T | GRCh38 |
NC_000019.9:g.17928923C>T , CM000681.1:g.17928923C>T | GRCh37 |
NC_000019.8:g.17789923C>T | NCBI36 |
NG_012092.1:g.8398G>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000317306.8:c.191-1055G>A MANE Select | ENSP00000321724.6:n.191-1055G>A | |
ENST00000317306.7:c.191-1055G>A | ENSP00000321724.6:n.191-1055G>A | |
ENST00000379695.5:c.286-1055G>A | ENSP00000369017.4:n.286-1055G>A | |
ENST00000598577.1:c.190-1033G>A | ||
NM_001265587.1:c.286-1055G>A | NP_001252516.1:n.286-1055G>A | |
NM_005543.3:c.191-1055G>A | NP_005534.2:n.191-1055G>A | |
NM_001265587.2:c.286-1055G>A | NP_001252516.1:n.286-1055G>A | |
NM_005543.4:c.191-1055G>A MANE Select | NP_005534.2:n.191-1055G>A |