HGVS | Genome Assembly |
---|---|
NC_000009.12:g.21140677A>G , CM000671.2:g.21140677A>G | GRCh38 |
NC_000009.11:g.21140676A>G , CM000671.1:g.21140676A>G | GRCh37 |
NC_000009.10:g.21130676A>G | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000380229.4:c.*306T>C MANE Select | ENSP00000369578.2:n.*306T>C | |
ENST00000380229.3:c.*306T>C | ENSP00000369578.2:n.*306T>C | |
NM_002177.1:c.*306T>C | NP_002168.1:n.*306T>C | |
NM_002177.2:c.*306T>C | NP_002168.1:n.*306T>C | |
NM_002177.3:c.*306T>C MANE Select | NP_002168.1:n.*306T>C |