HGVS | Genome Assembly |
---|---|
NC_000002.12:g.29062353C>A , CM000664.2:g.29062353C>A | GRCh38 |
NC_000002.11:g.29285219C>A , CM000664.1:g.29285219C>A | GRCh37 |
NC_000002.10:g.29138723C>A | NCBI36 |
NG_021427.1:g.16909G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000331664.6:c.*2516G>T MANE Select | ENSP00000332809.4:n.*2516G>T | |
ENST00000331664.5:c.6383G>T | ENSP00000332809.4:n.6383G>T | |
NM_001029883.2:c.6383G>T | NP_001025054.1:n.6383G>T | |
XM_011532826.1:c.*382-698G>T | XP_011531128.1:n.*382-698G>T | |
NM_001029883.3:c.*2516G>T MANE Select | NP_001025054.1:n.*2516G>T |