HGVS | Genome Assembly |
---|---|
NC_000005.10:g.132868701T>C , CM000667.2:g.132868701T>C | GRCh38 |
NC_000005.9:g.132204393T>C , CM000667.1:g.132204393T>C | GRCh37 |
NC_000005.8:g.132232292T>C | NCBI36 |
NG_012221.1:g.7075T>C | |
NG_047051.1:g.3184A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000378670.8:c.*1119T>C MANE Select | ENSP00000367939.3:n.*1119T>C | |
NM_014402.4:c.*1119T>C | NP_055217.2:n.*1119T>C | |
NM_014402.5:c.*1119T>C MANE Select | NP_055217.2:n.*1119T>C |