HGVS | Genome Assembly |
---|---|
NC_000002.12:g.203957864C>G , CM000664.2:g.203957864C>G | GRCh38 |
NC_000002.11:g.204822587C>G , CM000664.1:g.204822587C>G | GRCh37 |
NC_000002.10:g.204530832C>G | NCBI36 |
NG_011586.1:g.26085C>G , LRG_65:g.26085C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000316386.11:c.567C>G MANE Select | ENSP00000319476.6:p.Ala189= | |
ENST00000316386.10:c.567C>G | ENSP00000319476.6:p.Ala189= | |
ENST00000435193.1:c.501+1099C>G | ENSP00000415951.1:n.501+1099C>G | |
NM_012092.3:c.567C>G , LRG_65t1:c.567C>G | NP_036224.1:p.Ala189= | |
XM_011511028.1:c.567C>G | XP_011509330.1:p.Ala189= | |
XM_011511029.1:c.570C>G | XP_011509331.1:p.Ala190= | |
XM_011511030.1:c.480C>G | XP_011509332.1:p.Ala160= | |
XM_011511031.1:c.480C>G | XP_011509333.1:p.Ala160= | |
NM_012092.4:c.567C>G MANE Select | NP_036224.1:p.Ala189= |