HGVS | Genome Assembly |
---|---|
NC_000009.12:g.72577892T>C , CM000671.2:g.72577892T>C | GRCh38 |
NC_000009.11:g.75192808T>C , CM000671.1:g.75192808T>C | GRCh37 |
NC_000009.10:g.74382628T>C | NCBI36 |
NG_008213.1:g.61092T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000297784.10:c.-427-10T>C MANE Select | ENSP00000297784.6:n.-427-10T>C | |
ENST00000643676.1:n.307-38476T>C | ||
ENST00000645208.2:c.-437T>C | ENSP00000494684.1:n.-437T>C | |
ENST00000650689.1:n.66-10T>C | ||
ENST00000651183.1:c.-528-10T>C | ENSP00000498723.1:n.-528-10T>C | |
ENST00000651743.1:n.116-10T>C | ||
ENST00000297784.9:c.-427-10T>C | ENSP00000297784.5:n.-427-10T>C | |
ENST00000497073.1:n.105T>C | ||
NM_138691.2:c.-427-10T>C | NP_619636.2:n.-427-10T>C | |
NM_138691.3:c.-427-10T>C MANE Select | NP_619636.2:n.-427-10T>C |