HGVS | Genome Assembly |
---|---|
NC_000001.11:g.114709722C>G , CM000663.2:g.114709722C>G | GRCh38 |
NC_000001.10:g.115252343C>G , CM000663.1:g.115252343C>G | GRCh37 |
NC_000001.9:g.115053866C>G | NCBI36 |
NG_007572.1:g.12173G>C , LRG_92:g.12173G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000369535.5:c.297G>C MANE Select | ENSP00000358548.4:p.Gln99His | |
ENST00000369535.4:c.297G>C | ENSP00000358548.4:p.Gln99His | |
NM_002524.4:c.297G>C | NP_002515.1:p.Gln99His | |
NM_002524.5:c.297G>C MANE Select | NP_002515.1:p.Gln99His |