HGVS | Genome Assembly |
---|---|
NC_000001.11:g.192811720T>C , CM000663.2:g.192811720T>C | GRCh38 |
NC_000001.10:g.192780850T>C , CM000663.1:g.192780850T>C | GRCh37 |
NC_000001.9:g.191047473T>C | NCBI36 |
NG_012800.1:g.7682T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000235382.7:c.*124T>C MANE Select | ENSP00000235382.5:n.*124T>C | |
ENST00000235382.6:c.*124T>C | ENSP00000235382.5:n.*124T>C | |
NM_002923.3:c.*124T>C | NP_002914.1:n.*124T>C | |
NM_002923.4:c.*124T>C MANE Select | NP_002914.1:n.*124T>C |