HGVS | Genome Assembly |
---|---|
NC_000014.9:g.73136431C>A , CM000676.2:g.73136431C>A | GRCh38 |
NC_000014.8:g.73603139C>A , CM000676.1:g.73603139C>A | GRCh37 |
NC_000014.7:g.72672892C>A | NCBI36 |
NG_007386.2:g.4961C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000700265.1:c.-121C>A | ENSP00000514901.1:n.-121C>A | |
ENST00000700266.1:c.-288C>A | ENSP00000514902.1:n.-288C>A | |
ENST00000700267.1:c.-153C>A | ENSP00000514903.1:n.-153C>A | |
ENST00000557356.5:c.-153C>A | ENSP00000451498.1:n.-153C>A |