HGVS | Genome Assembly |
---|---|
NC_000005.10:g.159320357G>C , CM000667.2:g.159320357G>C | GRCh38 |
NC_000005.9:g.158747365G>C , CM000667.1:g.158747365G>C | GRCh37 |
NC_000005.8:g.158679943G>C | NCBI36 |
NG_009618.1:g.15117C>G , LRG_71:g.15117C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000696750.1:c.16C>G | ENSP00000512849.1:p.His6Asp | |
ENST00000696751.1:c.*141C>G | ENSP00000512850.1:n.*141C>G | |
ENST00000231228.3:c.646C>G MANE Select | ENSP00000231228.2:p.His216Asp | |
ENST00000231228.2:c.646C>G | ENSP00000231228.2:p.His216Asp | |
NM_002187.2:c.646C>G , LRG_71t1:c.646C>G | NP_002178.2:p.His216Asp | |
NM_002187.3:c.646C>G MANE Select | NP_002178.2:p.His216Asp |