HGVS | Genome Assembly |
---|---|
NC_000008.11:g.117807275T>G , CM000670.2:g.117807275T>G | GRCh38 |
NC_000008.10:g.118819514T>G , CM000670.1:g.118819514T>G | GRCh37 |
NC_000008.9:g.118888695T>G | NCBI36 |
NG_007455.2:g.309545A>C , LRG_493:g.309545A>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000684189.1:n.1292A>C | ||
ENST00000378204.7:c.1825A>C MANE Select | ENSP00000367446.3:p.Thr609Pro | |
ENST00000378204.6:c.1825A>C | ENSP00000367446.2:p.Thr609Pro | |
ENST00000437196.1:c.*716A>C | ENSP00000407299.1:n.*716A>C | |
NM_000127.2:c.1825A>C , LRG_493t1:c.1825A>C | NP_000118.2:p.Thr609Pro | |
NM_000127.3:c.1825A>C MANE Select | NP_000118.2:p.Thr609Pro |