HGVS | Genome Assembly |
---|---|
NC_000010.11:g.94735727G>C , CM000672.2:g.94735727G>C | GRCh38 |
NC_000010.10:g.96495484G>C , CM000672.1:g.96495484G>C | GRCh37 |
NC_000010.9:g.96485474G>C | NCBI36 |
NG_008373.1:g.57234G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000285979.11:c.*283G>C MANE Select | ENSP00000285979.6:n.*283G>C | |
ENST00000285979.10:c.*283G>C | ENSP00000285979.6:n.*283G>C | |
ENST00000464755.1:c.931+2289G>C | ENSP00000483243.1:n.931+2289G>C | |
NM_000772.2:c.*283G>C | NP_000763.1:n.*283G>C | |
NM_001128925.1:c.*283G>C | NP_001122397.1:n.*283G>C | |
NM_000772.3:c.*283G>C MANE Select | NP_000763.1:n.*283G>C | |
NM_001128925.2:c.*283G>C | NP_001122397.1:n.*283G>C |