HGVS | Genome Assembly |
---|---|
NC_000010.11:g.94780500T>G , CM000672.2:g.94780500T>G | GRCh38 |
NC_000010.10:g.96540257T>G , CM000672.1:g.96540257T>G | GRCh37 |
NC_000010.9:g.96530247T>G | NCBI36 |
NG_008384.2:g.22795T>G | |
NG_008384.3:g.22820T>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000371321.9:c.483T>G MANE Select | ENSP00000360372.3:p.Ala161= | |
ENST00000645461.1:n.1536T>G | ||
ENST00000371321.7:c.483T>G | ENSP00000360372.3:p.Ala161= | |
ENST00000464755.1:c.1246T>G | ENSP00000483243.1:n.1246T>G | |
NM_000769.2:c.483T>G | NP_000760.1:p.Ala161= | |
NM_000769.4:c.483T>G MANE Select | NP_000760.1:p.Ala161= |