HGVS | Genome Assembly |
---|---|
NC_000006.12:g.31577614A>C , CM000668.2:g.31577614A>C | GRCh38 |
NC_000006.11:g.31545391A>C , CM000668.1:g.31545391A>C | GRCh37 |
NC_000006.10:g.31653370A>C | NCBI36 |
NG_007462.1:g.7042A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000449264.3:c.*77A>C MANE Select | ENSP00000398698.2:n.*77A>C | |
ENST00000449264.2:c.*77A>C | ENSP00000398698.2:n.*77A>C | |
NM_000594.3:c.*77A>C | NP_000585.2:n.*77A>C | |
NM_000594.4:c.*77A>C MANE Select | NP_000585.2:n.*77A>C |