HGVS | Genome Assembly |
---|---|
NC_000016.10:g.81357928G= , CM000678.2:g.81357928G= | GRCh38 |
NC_000016.9:g.81391533G= , CM000678.1:g.81391533G= | GRCh37 |
NC_000016.8:g.79949034G= | NCBI36 |
NG_009007.1:g.47963G= , LRG_242:g.47963G= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000648349.2:c.*678G= | ENSP00000498114.1:n.*678G= | |
ENST00000648994.2:c.970G= MANE Select | ENSP00000497351.1:p.Ala324= | |
ENST00000650388.1:c.504G= | ENSP00000498081.1:n.504G= | |
ENST00000568107.2:c.970G= | ENSP00000476795.1:p.Ala324= | |
NM_022041.3:c.970G= , LRG_242t1:c.970G= | NP_071324.1:p.Ala324= | |
XM_017023734.1:c.331G= | XP_016879223.1:p.Ala111= | |
NM_001377486.1:c.331G= | NP_001364415.1:p.Ala111= | |
NM_022041.4:c.970G= MANE Select | NP_071324.1:p.Ala324= |