HGVS | Genome Assembly |
---|---|
NC_000012.12:g.48981789T>C , CM000674.2:g.48981789T>C | GRCh38 |
NC_000012.11:g.49375572T>C , CM000674.1:g.49375572T>C | GRCh37 |
NC_000012.10:g.47661839T>C | NCBI36 |
NG_033141.1:g.8337T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000293549.4:c.*149T>C MANE Select | ENSP00000293549.3:n.*149T>C | |
NM_005430.3:c.*149T>C | NP_005421.1:n.*149T>C | |
NM_005430.4:c.*149T>C MANE Select | NP_005421.1:n.*149T>C |