HGVS | Genome Assembly |
---|---|
NC_000008.11:g.117835481T>C , CM000670.2:g.117835481T>C | GRCh38 |
NC_000008.10:g.118847720T>C , CM000670.1:g.118847720T>C | GRCh37 |
NC_000008.9:g.118916901T>C | NCBI36 |
NG_007455.2:g.281339A>G , LRG_493:g.281339A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000684189.1:n.594A>G | ||
ENST00000378204.7:c.1127A>G MANE Select | ENSP00000367446.3:p.Gln376Arg | |
ENST00000436216.2:c.495A>G | ||
ENST00000378204.6:c.1127A>G | ENSP00000367446.2:p.Gln376Arg | |
ENST00000436216.1:c.495A>G | ||
ENST00000437196.1:c.*18A>G | ENSP00000407299.1:n.*18A>G | |
NM_000127.2:c.1127A>G , LRG_493t1:c.1127A>G | NP_000118.2:p.Gln376Arg | |
NM_000127.3:c.1127A>G MANE Select | NP_000118.2:p.Gln376Arg |