HGVS | Genome Assembly |
---|---|
NC_000008.11:g.118110100T>G , CM000670.2:g.118110100T>G | GRCh38 |
NC_000008.10:g.119122339T>G , CM000670.1:g.119122339T>G | GRCh37 |
NC_000008.9:g.119191520T>G | NCBI36 |
NG_007455.2:g.6720A>C , LRG_493:g.6720A>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000378204.7:c.947A>C MANE Select | ENSP00000367446.3:p.Asn316Thr | |
ENST00000436216.2:c.315A>C | ||
ENST00000378204.6:c.947A>C | ENSP00000367446.2:p.Asn316Thr | |
ENST00000436216.1:c.315A>C | ||
ENST00000437196.1:c.73+874A>C | ENSP00000407299.1:n.73+874A>C | |
NM_000127.2:c.947A>C , LRG_493t1:c.947A>C | NP_000118.2:p.Asn316Thr | |
NM_000127.3:c.947A>C MANE Select | NP_000118.2:p.Asn316Thr |