HGVS | Genome Assembly |
---|---|
NC_000010.11:g.94781868T>A , CM000672.2:g.94781868T>A | GRCh38 |
NC_000010.10:g.96541625T>A , CM000672.1:g.96541625T>A | GRCh37 |
NC_000010.9:g.96531615T>A | NCBI36 |
NG_008384.2:g.24163T>A | |
NG_008384.3:g.24188T>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000371321.9:c.690T>A MANE Select | ENSP00000360372.3:p.His230Gln | |
ENST00000645461.1:n.1743T>A | ||
ENST00000371321.7:c.690T>A | ENSP00000360372.3:p.His230Gln | |
ENST00000464755.1:c.1453T>A | ENSP00000483243.1:n.1453T>A | |
NM_000769.2:c.690T>A | NP_000760.1:p.His230Gln | |
NM_000769.4:c.690T>A MANE Select | NP_000760.1:p.His230Gln |