HGVS | Genome Assembly |
---|---|
NC_000023.11:g.50911174A>C , CM000685.2:g.50911174A>C | GRCh38 |
NC_000023.10:g.50654174A>C , CM000685.1:g.50654174A>C | GRCh37 |
NC_000023.9:g.50670914A>C | NCBI36 |
NG_012894.1:g.5391A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000252677.4:c.328+63A>C MANE Select | ENSP00000252677.3:n.328+63A>C | |
ENST00000252677.3:c.328+63A>C | ENSP00000252677.3:n.328+63A>C | |
NM_005448.2:c.328+63A>C MANE Select | NP_005439.2:n.328+63A>C |