HGVS | Genome Assembly |
---|---|
NC_000014.9:g.28767489G>T , CM000676.2:g.28767489G>T | GRCh38 |
NC_000014.8:g.29236695G>T , CM000676.1:g.29236695G>T | GRCh37 |
NC_000014.7:g.28306446G>T | NCBI36 |
NG_009367.1:g.5409G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000706482.1:c.210G>T | ENSP00000516406.1:p.Gln70His | |
ENST00000313071.7:c.210G>T MANE Select | ENSP00000339004.3:p.Gln70His | |
ENST00000313071.6:c.210G>T | ENSP00000339004.3:p.Gln70His | |
NM_005249.4:c.210G>T | NP_005240.3:p.Gln70His | |
NM_005249.5:c.210G>T MANE Select | NP_005240.3:p.Gln70His |