HGVS | Genome Assembly |
---|---|
NC_000002.12:g.169492908A>C , CM000664.2:g.169492908A>C | GRCh38 |
NC_000002.11:g.170349418A>C , CM000664.1:g.170349418A>C | GRCh37 |
NC_000002.10:g.170057664A>C | NCBI36 |
NG_011567.1:g.18413A>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000295240.8:c.421A>C MANE Select | ENSP00000295240.3:p.Lys141Gln | |
ENST00000295240.7:c.421A>C | ENSP00000295240.3:p.Lys141Gln | |
ENST00000392663.6:c.421A>C | ENSP00000376431.2:p.Lys141Gln | |
ENST00000443151.1:c.*143A>C | ENSP00000406182.1:n.*143A>C | |
ENST00000475571.1:n.388A>C | ||
ENST00000513963.1:c.421A>C | ENSP00000424363.1:p.Lys141Gln | |
NM_152384.2:c.421A>C | NP_689597.1:p.Lys141Gln | |
NM_152384.3:c.421A>C MANE Select | NP_689597.1:p.Lys141Gln |