HGVS | Genome Assembly |
---|---|
NC_000012.12:g.48981774A>C , CM000674.2:g.48981774A>C | GRCh38 |
NC_000012.11:g.49375557A>C , CM000674.1:g.49375557A>C | GRCh37 |
NC_000012.10:g.47661824A>C | NCBI36 |
NG_033141.1:g.8322A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000293549.4:c.*134A>C MANE Select | ENSP00000293549.3:n.*134A>C | |
NM_005430.3:c.*134A>C | NP_005421.1:n.*134A>C | |
NM_005430.4:c.*134A>C MANE Select | NP_005421.1:n.*134A>C |