HGVS | Genome Assembly |
---|---|
NC_000009.12:g.134413069C>T , CM000671.2:g.134413069C>T | GRCh38 |
NC_000009.11:g.137304915C>T , CM000671.1:g.137304915C>T | GRCh37 |
NC_000009.10:g.136444736C>T | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000481739.2:c.610+3950C>T MANE Select | ENSP00000419692.1:n.610+3950C>T | |
ENST00000672570.1:c.529+3950C>T | ENSP00000500402.1:n.529+3950C>T | |
ENST00000356384.4:n.1020+3950C>T | ||
ENST00000481739.1:c.610+3950C>T | ENSP00000419692.1:n.610+3950C>T | |
NM_001291920.1:c.529+3950C>T | NP_001278849.1:n.529+3950C>T | |
NM_001291921.1:c.319+3950C>T | NP_001278850.1:n.319+3950C>T | |
NM_002957.5:c.610+3950C>T | NP_002948.1:n.610+3950C>T | |
NM_002957.6:c.610+3950C>T MANE Select | NP_002948.1:n.610+3950C>T | |
NM_001291921.2:c.319+3950C>T | NP_001278850.1:n.319+3950C>T | |
NM_001291920.2:c.529+3950C>T | NP_001278849.1:n.529+3950C>T |