HGVS | Genome Assembly |
---|---|
NC_000019.10:g.44905910C>T , CM000681.2:g.44905910C>T | GRCh38 |
NC_000019.9:g.45409167C>T , CM000681.1:g.45409167C>T | GRCh37 |
NC_000019.8:g.50101007C>T | NCBI36 |
NG_007084.2:g.5129C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000252486.9:c.-24+69C>T MANE Select | ENSP00000252486.3:n.-24+69C>T | |
ENST00000252486.8:c.-24+69C>T | ENSP00000252486.3:n.-24+69C>T | |
ENST00000434152.5:c.42C>T | ENSP00000413653.2:p.Asn14= | |
ENST00000446996.5:c.-39+69C>T | ENSP00000413135.1:n.-39+69C>T | |
ENST00000485628.2:n.46+69C>T | ||
NM_000041.3:c.-24+69C>T | NP_000032.1:n.-24+69C>T | |
NM_001302688.1:c.42C>T | NP_001289617.1:p.Asn14= | |
NM_001302691.1:c.-39+69C>T | NP_001289620.1:n.-39+69C>T | |
NM_000041.4:c.-24+69C>T MANE Select | NP_000032.1:n.-24+69C>T | |
NM_001302688.2:c.42C>T | NP_001289617.1:p.Asn14= | |
NM_001302691.2:c.-39+69C>T | NP_001289620.1:n.-39+69C>T |