HGVS | Genome Assembly |
---|---|
NC_000001.11:g.119422899A>C , CM000663.2:g.119422899A>C | GRCh38 |
NC_000001.10:g.119965522A>C , CM000663.1:g.119965522A>C | GRCh37 |
NC_000001.9:g.119767045A>C | NCBI36 |
NG_013349.1:g.12969A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000369416.4:c.*279A>C MANE Select | ENSP00000358424.3:n.*279A>C | |
ENST00000369416.3:c.*279A>C | ENSP00000358424.3:n.*279A>C | |
ENST00000543831.5:c.*279A>C | ENSP00000445122.1:n.*279A>C | |
NM_000198.3:c.*279A>C | NP_000189.1:n.*279A>C | |
NM_001166120.1:c.*279A>C | NP_001159592.1:n.*279A>C | |
NM_000198.4:c.*279A>C MANE Select | NP_000189.1:n.*279A>C | |
NM_001166120.2:c.*279A>C | NP_001159592.1:n.*279A>C |