HGVS | Genome Assembly |
---|---|
NC_000016.10:g.84032337C>G , CM000678.2:g.84032337C>G | GRCh38 |
NC_000016.9:g.84065942C>G , CM000678.1:g.84065942C>G | GRCh37 |
NC_000016.8:g.82623443C>G | NCBI36 |
NG_034136.1:g.14821G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000299709.8:c.531-369G>C MANE Select | ENSP00000299709.3:n.531-369G>C | |
ENST00000299709.7:c.531-369G>C | ENSP00000299709.3:n.531-369G>C | |
ENST00000568178.1:c.531-369G>C | ENSP00000457737.1:n.531-369G>C | |
NM_001080442.2:c.531-369G>C | NP_001073911.1:n.531-369G>C | |
XM_011522872.1:c.531-369G>C | XP_011521174.1:n.531-369G>C | |
XM_017022946.1:c.531-369G>C | XP_016878435.1:n.531-369G>C | |
NM_001080442.3:c.531-369G>C MANE Select | NP_001073911.1:n.531-369G>C |