HGVS | Genome Assembly |
---|---|
NC_000014.9:g.93218656G>C , CM000676.2:g.93218656G>C | GRCh38 |
NC_000014.8:g.93685002G>C , CM000676.1:g.93685002G>C | GRCh37 |
NC_000014.7:g.92754755G>C | NCBI36 |
NG_051089.1:g.16601G>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000013070.11:c.731G>C MANE Select | ENSP00000013070.6:p.Gly244Ala | |
ENST00000013070.10:c.731G>C | ENSP00000013070.6:p.Gly244Ala | |
ENST00000416753.5:c.503G>C | ENSP00000391706.2:p.Gly168Ala | |
ENST00000553674.1:c.*432G>C | ENSP00000450470.1:n.*432G>C | |
ENST00000553857.5:c.378+3375G>C | ||
ENST00000556871.5:c.440G>C | ENSP00000451022.1:p.Gly147Ala | |
NM_175748.3:c.731G>C | NP_786924.2:p.Gly244Ala | |
NR_038150.1:n.833G>C | ||
NM_175748.4:c.731G>C MANE Select | NP_786924.2:p.Gly244Ala | |
NR_038150.2:n.633G>C |