HGVS | Genome Assembly |
---|---|
NC_000014.9:g.93218563G>C , CM000676.2:g.93218563G>C | GRCh38 |
NC_000014.8:g.93684909G>C , CM000676.1:g.93684909G>C | GRCh37 |
NC_000014.7:g.92754662G>C | NCBI36 |
NG_051089.1:g.16508G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000013070.11:c.638G>C MANE Select | ENSP00000013070.6:p.Arg213Pro | |
ENST00000013070.10:c.638G>C | ENSP00000013070.6:p.Arg213Pro | |
ENST00000416753.5:c.410G>C | ENSP00000391706.2:p.Arg137Pro | |
ENST00000553674.1:c.*339G>C | ENSP00000450470.1:n.*339G>C | |
ENST00000553857.5:c.378+3282G>C | ||
ENST00000556871.5:c.347G>C | ENSP00000451022.1:p.Arg116Pro | |
ENST00000557048.1:n.547G>C | ||
NM_175748.3:c.638G>C | NP_786924.2:p.Arg213Pro | |
NR_038150.1:n.740G>C | ||
NM_175748.4:c.638G>C MANE Select | NP_786924.2:p.Arg213Pro | |
NR_038150.2:n.540G>C |