HGVS | Genome Assembly |
---|---|
NC_000005.10:g.1212967A>C , CM000667.2:g.1212967A>C | GRCh38 |
NC_000005.9:g.1213082A>C , CM000667.1:g.1213082A>C | GRCh37 |
NC_000005.8:g.1266082A>C | NCBI36 |
NG_008282.1:g.16373A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000304460.11:c.663+483A>C MANE Select | ENSP00000305302.10:n.663+483A>C | |
ENST00000304460.10:c.663+483A>C | ENSP00000305302.10:n.663+483A>C | |
ENST00000515652.5:c.571+483A>C | ENSP00000425701.1:n.571+483A>C | |
NM_001003841.2:c.663+483A>C | NP_001003841.1:n.663+483A>C | |
NM_001003841.3:c.663+483A>C MANE Select | NP_001003841.1:n.663+483A>C |