HGVS | Genome Assembly |
---|---|
NC_000009.12:g.134375505C>T , CM000671.2:g.134375505C>T | GRCh38 |
NC_000009.11:g.137267351C>T , CM000671.1:g.137267351C>T | GRCh37 |
NC_000009.10:g.136407172C>T | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000481739.2:c.29-26127C>T MANE Select | ENSP00000419692.1:n.29-26127C>T | |
ENST00000356384.4:n.293+1375C>T | ||
ENST00000481739.1:c.29-26127C>T | ENSP00000419692.1:n.29-26127C>T | |
ENST00000484822.1:n.453-26127C>T | ||
NM_002957.5:c.29-26127C>T | NP_002948.1:n.29-26127C>T | |
NM_002957.6:c.29-26127C>T MANE Select | NP_002948.1:n.29-26127C>T |