HGVS | Genome Assembly |
---|---|
NC_000005.10:g.1438239A>T , CM000667.2:g.1438239A>T | GRCh38 |
NC_000005.9:g.1438354A>T , CM000667.1:g.1438354A>T | GRCh37 |
NC_000005.8:g.1491354A>T | NCBI36 |
NG_015885.1:g.12190T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000270349.12:c.418+3120T>A MANE Select | ENSP00000270349.9:n.418+3120T>A | |
ENST00000270349.11:c.418+3120T>A | ENSP00000270349.9:n.418+3120T>A | |
NM_001044.4:c.418+3120T>A | NP_001035.1:n.418+3120T>A | |
NM_001044.5:c.418+3120T>A MANE Select | NP_001035.1:n.418+3120T>A |