HGVS | Genome Assembly |
---|---|
NC_000002.12:g.216205626T>C , CM000664.2:g.216205626T>C | GRCh38 |
NC_000002.11:g.217070349T>C , CM000664.1:g.217070349T>C | GRCh37 |
NC_000002.10:g.216778594T>C | NCBI36 |
NG_029780.1:g.101330T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000392132.7:c.*424T>C MANE Select | ENSP00000375977.2:n.*424T>C | |
ENST00000392132.6:c.*424T>C | ENSP00000375977.2:n.*424T>C | |
ENST00000392133.7:c.*424T>C | ENSP00000375978.3:n.*424T>C | |
NM_021141.3:c.*424T>C | NP_066964.1:n.*424T>C | |
NM_021141.4:c.*424T>C MANE Select | NP_066964.1:n.*424T>C |