HGVS | Genome Assembly |
---|---|
NC_000008.11:g.117835459C>G , CM000670.2:g.117835459C>G | GRCh38 |
NC_000008.10:g.118847698C>G , CM000670.1:g.118847698C>G | GRCh37 |
NC_000008.9:g.118916879C>G | NCBI36 |
NG_007455.2:g.281361G>C , LRG_493:g.281361G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000684189.1:n.616G>C | ||
ENST00000378204.7:c.1149G>C MANE Select | ENSP00000367446.3:p.Glu383Asp | |
ENST00000436216.2:c.517G>C | ||
ENST00000378204.6:c.1149G>C | ENSP00000367446.2:p.Glu383Asp | |
ENST00000436216.1:c.517G>C | ||
ENST00000437196.1:c.*40G>C | ENSP00000407299.1:n.*40G>C | |
NM_000127.2:c.1149G>C , LRG_493t1:c.1149G>C | NP_000118.2:p.Glu383Asp | |
NM_000127.3:c.1149G>C MANE Select | NP_000118.2:p.Glu383Asp |