HGVS | Genome Assembly |
---|---|
NC_000014.9:g.96204866G>T , CM000676.2:g.96204866G>T | GRCh38 |
NC_000014.8:g.96671203G>T , CM000676.1:g.96671203G>T | GRCh37 |
NC_000014.7:g.95740956G>T | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000554311.2:c.-133G>T MANE Select | ENSP00000450482.1:n.-133G>T | |
ENST00000539359.1:c.-375G>T | ENSP00000438376.1:n.-375G>T | |
ENST00000542454.2:c.-2901G>T | ENSP00000439459.2:n.-2901G>T | |
ENST00000553811.1:c.-128G>T | ENSP00000450984.1:n.-128G>T | |
ENST00000554311.1:c.-133G>T | ENSP00000450482.1:n.-133G>T | |
NM_000623.3:c.-128G>T | NP_000614.1:n.-128G>T | |
NM_000623.4:c.-128G>T | NP_000614.1:n.-128G>T | |
NM_001379692.1:c.-133G>T MANE Select | NP_001366621.1:n.-133G>T |