HGVS | Genome Assembly |
---|---|
NC_000012.12:g.5044252G>C , CM000674.2:g.5044252G>C | GRCh38 |
NC_000012.11:g.5153418G>C , CM000674.1:g.5153418G>C | GRCh37 |
NC_000012.10:g.5023679G>C | NCBI36 |
NG_012198.1:g.5334G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000252321.5:c.105G>C MANE Select | ENSP00000252321.3:p.Gln35His | |
ENST00000252321.4:c.105G>C | ENSP00000252321.3:p.Gln35His | |
NM_002234.3:c.105G>C | NP_002225.2:p.Gln35His | |
NM_002234.4:c.105G>C MANE Select | NP_002225.2:p.Gln35His |