HGVS | Genome Assembly |
---|---|
NC_000001.11:g.153548461C>G , CM000663.2:g.153548461C>G | GRCh38 |
NC_000001.10:g.153520937C>G , CM000663.1:g.153520937C>G | GRCh37 |
NC_000001.9:g.151787561C>G | NCBI36 |
NG_027993.1:g.2346G>C | |
NG_046928.1:g.5798G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000368713.8:c.25G>C (S100A3) MANE Select | ENSP00000357702.3:p.Val9Leu | |
ENST00000368712.1:c.25G>C (S100A3) | ENSP00000357701.1:p.Val9Leu | |
ENST00000368713.7:c.25G>C (S100A3) | ENSP00000357702.3:p.Val9Leu | |
ENST00000368714.1:c.-16+1604G>C (S100A4) | ENSP00000357703.1:n.-16+1604G>C | |
NM_002960.1:c.25G>C (S100A3) | NP_002951.1:p.Val9Leu | |
NR_125947.1:n.209C>G | ||
NM_002960.2:c.25G>C (S100A3) MANE Select | NP_002951.1:p.Val9Leu |