HGVS | Genome Assembly |
---|---|
NC_000014.9:g.96204997T>C , CM000676.2:g.96204997T>C | GRCh38 |
NC_000014.8:g.96671334T>C , CM000676.1:g.96671334T>C | GRCh37 |
NC_000014.7:g.95741087T>C | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000554311.2:c.-40+38T>C MANE Select | ENSP00000450482.1:n.-40+38T>C | |
ENST00000539359.1:c.-282+38T>C | ENSP00000438376.1:n.-282+38T>C | |
ENST00000542454.2:c.-2808+38T>C | ENSP00000439459.2:n.-2808+38T>C | |
ENST00000553811.1:c.-35+38T>C | ENSP00000450984.1:n.-35+38T>C | |
ENST00000554311.1:c.-40+38T>C | ENSP00000450482.1:n.-40+38T>C | |
NM_000623.3:c.-35+38T>C | NP_000614.1:n.-35+38T>C | |
NM_000623.4:c.-35+38T>C | NP_000614.1:n.-35+38T>C | |
NM_001379692.1:c.-40+38T>C MANE Select | NP_001366621.1:n.-40+38T>C |