HGVS | Genome Assembly |
---|---|
NC_000014.9:g.28767673G>T , CM000676.2:g.28767673G>T | GRCh38 |
NC_000014.8:g.29236879G>T , CM000676.1:g.29236879G>T | GRCh37 |
NC_000014.7:g.28306630G>T | NCBI36 |
NG_009367.1:g.5593G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000706482.1:c.394G>T | ENSP00000516406.1:p.Gly132Cys | |
ENST00000313071.7:c.394G>T MANE Select | ENSP00000339004.3:p.Gly132Cys | |
ENST00000313071.6:c.394G>T | ENSP00000339004.3:p.Gly132Cys | |
NM_005249.4:c.394G>T | NP_005240.3:p.Gly132Cys | |
NM_005249.5:c.394G>T MANE Select | NP_005240.3:p.Gly132Cys |