HGVS | Genome Assembly |
---|---|
NC_000006.12:g.143489693T>C , CM000668.2:g.143489693T>C | GRCh38 |
NC_000006.11:g.143810830T>C , CM000668.1:g.143810830T>C | GRCh37 |
NC_000006.10:g.143852523T>C | NCBI36 |
NG_008459.1:g.43913T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000367591.5:c.*467T>C MANE Select | ENSP00000356563.4:n.*467T>C | |
ENST00000367591.4:c.*467T>C | ENSP00000356563.4:n.*467T>C | |
NM_003630.2:c.*467T>C | NP_003621.1:n.*467T>C | |
NM_003630.3:c.*467T>C MANE Select | NP_003621.1:n.*467T>C |