HGVS | Genome Assembly |
---|---|
NC_000009.12:g.134375509A= , CM000671.2:g.134375509A= | GRCh38 |
NC_000009.11:g.137267355A= , CM000671.1:g.137267355A= | GRCh37 |
NC_000009.10:g.136407176A= | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000481739.2:c.29-26123A= MANE Select | ENSP00000419692.1:n.29-26123A= | |
ENST00000356384.4:n.293+1379A= | ||
ENST00000481739.1:c.29-26123A= | ENSP00000419692.1:n.29-26123A= | |
ENST00000484822.1:n.453-26123A= | ||
NM_002957.5:c.29-26123A= | NP_002948.1:n.29-26123A= | |
NM_002957.6:c.29-26123A= MANE Select | NP_002948.1:n.29-26123A= |