HGVS | Genome Assembly |
---|---|
NC_000005.10:g.173232573C>A , CM000667.2:g.173232573C>A | GRCh38 |
NC_000005.9:g.172659576C>A , CM000667.1:g.172659576C>A | GRCh37 |
NC_000005.8:g.172592182C>A | NCBI36 |
NG_013340.1:g.7740G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000329198.5:c.971G>T MANE Select | ENSP00000327758.4:p.Trp324Leu | |
ENST00000329198.4:c.971G>T | ENSP00000327758.4:p.Trp324Leu | |
NM_001166175.1:c.*924G>T | NP_001159647.1:n.*924G>T | |
NM_001166176.1:c.*770G>T | NP_001159648.1:n.*770G>T | |
NM_004387.3:c.971G>T | NP_004378.1:p.Trp324Leu | |
NM_004387.4:c.971G>T MANE Select | NP_004378.1:p.Trp324Leu | |
NM_001166175.2:c.*924G>T | NP_001159647.1:n.*924G>T | |
NM_001166176.2:c.*770G>T | NP_001159648.1:n.*770G>T |