HGVS | Genome Assembly |
---|---|
NC_000019.10:g.15879199A>T , CM000681.2:g.15879199A>T | GRCh38 |
NC_000019.9:g.15990009A>T , CM000681.1:g.15990009A>T | GRCh37 |
NC_000019.8:g.15851009A>T | NCBI36 |
NG_007971.2:g.23876T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000221700.11:c.1397+147T>A MANE Select | ENSP00000221700.3:n.1397+147T>A | |
ENST00000011989.11:c.1397+147T>A | ENSP00000011989.8:n.1397+147T>A | |
ENST00000221700.10:c.1397+147T>A | ENSP00000221700.3:n.1397+147T>A | |
ENST00000392846.7:n.1340+147T>A | ||
ENST00000589654.2:c.185+147T>A | ||
NM_001082.4:c.1397+147T>A | NP_001073.3:n.1397+147T>A | |
NM_001082.5:c.1397+147T>A MANE Select | NP_001073.3:n.1397+147T>A |