HGVS | Genome Assembly |
---|---|
NC_000014.9:g.73136427A>G , CM000676.2:g.73136427A>G | GRCh38 |
NC_000014.8:g.73603135A>G , CM000676.1:g.73603135A>G | GRCh37 |
NC_000014.7:g.72672888A>G | NCBI36 |
NG_007386.2:g.4957A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000700265.1:c.-125A>G | ENSP00000514901.1:n.-125A>G | |
ENST00000700266.1:c.-292A>G | ENSP00000514902.1:n.-292A>G | |
ENST00000700267.1:c.-157A>G | ENSP00000514903.1:n.-157A>G | |
ENST00000557356.5:c.-157A>G | ENSP00000451498.1:n.-157A>G |