HGVS | Genome Assembly |
---|---|
NC_000004.12:g.24800292T>C , CM000666.2:g.24800292T>C | GRCh38 |
NC_000004.11:g.24801914T>C , CM000666.1:g.24801914T>C | GRCh37 |
NC_000004.10:g.24411012T>C | NCBI36 |
NG_012213.1:g.9830T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000382120.4:c.*48T>C MANE Select | ENSP00000371554.3:n.*48T>C | |
ENST00000382120.3:c.*48T>C | ENSP00000371554.3:n.*48T>C | |
NM_003102.2:c.*48T>C | NP_003093.2:n.*48T>C | |
XR_427488.1:n.961T>C | ||
NM_003102.3:c.*48T>C | NP_003093.2:n.*48T>C | |
NM_003102.4:c.*48T>C MANE Select | NP_003093.2:n.*48T>C |