HGVS | Genome Assembly |
---|---|
NC_000011.10:g.116833011A>C , CM000673.2:g.116833011A>C | GRCh38 |
NC_000011.9:g.116703727A>C , CM000673.1:g.116703727A>C | GRCh37 |
NC_000011.8:g.116208937A>C | NCBI36 |
NG_008949.1:g.8104A>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000227667.8:c.*127A>C MANE Select | ENSP00000227667.2:n.*127A>C | |
ENST00000227667.7:c.*127A>C | ENSP00000227667.2:n.*127A>C | |
ENST00000375345.3:c.*127A>C | ENSP00000364494.1:n.*127A>C | |
ENST00000630701.1:c.481A>C | ENSP00000486182.1:n.481A>C | |
NM_000040.1:c.*127A>C | NP_000031.1:n.*127A>C | |
NM_000040.2:c.*127A>C | NP_000031.1:n.*127A>C | |
NM_000040.3:c.*127A>C MANE Select | NP_000031.1:n.*127A>C |