HGVS | Genome Assembly |
---|---|
NC_000001.11:g.155140004C>T , CM000663.2:g.155140004C>T | GRCh38 |
NC_000001.10:g.155112480C>T , CM000663.1:g.155112480C>T | GRCh37 |
NC_000001.9:g.153379104C>T | NCBI36 |
NG_012871.1:g.5517G>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000368400.5:c.237G>A MANE Select | ENSP00000357385.5:p.Gln79= | |
ENST00000341298.3:c.237G>A | ENSP00000344338.3:p.Gln79= | |
ENST00000368399.1:c.327G>A | ENSP00000357384.1:p.Gln109= | |
ENST00000368400.4:c.237G>A | ENSP00000357385.4:p.Gln79= | |
NM_018973.3:c.327G>A | NP_061846.2:p.Gln109= | |
NM_153741.1:c.237G>A | NP_714963.1:p.Gln79= | |
XM_017001498.1:c.237G>A | XP_016856987.1:p.Gln79= | |
NM_153741.2:c.237G>A MANE Select | NP_714963.1:p.Gln79= | |
NM_018973.4:c.327G>A | NP_061846.2:p.Gln109= |