HGVS | Genome Assembly |
---|---|
NC_000008.11:g.117837189C>G , CM000670.2:g.117837189C>G | GRCh38 |
NC_000008.10:g.118849428C>G , CM000670.1:g.118849428C>G | GRCh37 |
NC_000008.9:g.118918609C>G | NCBI36 |
NG_007455.2:g.279631G>C , LRG_493:g.279631G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000684189.1:n.442G>C | ||
ENST00000378204.7:c.975G>C MANE Select | ENSP00000367446.3:p.Arg325= | |
ENST00000436216.2:c.343G>C | ||
ENST00000378204.6:c.975G>C | ENSP00000367446.2:p.Arg325= | |
ENST00000436216.1:c.343G>C | ||
ENST00000437196.1:c.74-1638G>C | ENSP00000407299.1:n.74-1638G>C | |
NM_000127.2:c.975G>C , LRG_493t1:c.975G>C | NP_000118.2:p.Arg325= | |
NM_000127.3:c.975G>C MANE Select | NP_000118.2:p.Arg325= |