HGVS | Genome Assembly |
---|---|
NC_000002.12:g.182838390T>A , CM000664.2:g.182838390T>A | GRCh38 |
NC_000002.11:g.183703118T>A , CM000664.1:g.183703118T>A | GRCh37 |
NC_000002.10:g.183411363T>A | NCBI36 |
NG_017197.1:g.33381A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000295113.5:c.797+19A>T MANE Select | ENSP00000295113.4:n.797+19A>T | |
ENST00000295113.4:c.797+19A>T | ENSP00000295113.4:n.797+19A>T | |
NM_001463.3:c.797+19A>T | NP_001454.2:n.797+19A>T | |
NM_001463.4:c.797+19A>T MANE Select | NP_001454.2:n.797+19A>T |