HGVS | Genome Assembly |
---|---|
NC_000002.12:g.149570079A>C , CM000664.2:g.149570079A>C | GRCh38 |
NC_000002.11:g.150426593A>C , CM000664.1:g.150426593A>C | GRCh37 |
NC_000002.10:g.150134839A>C | NCBI36 |
NG_009189.1:g.22738T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000303319.10:c.786T>G MANE Select | ENSP00000301920.5:p.Cys262Trp | |
ENST00000303319.9:c.786T>G | ENSP00000301920.5:p.Cys262Trp | |
ENST00000422782.2:c.888T>G | ENSP00000408331.2:p.Cys296Trp | |
ENST00000428879.5:c.786T>G | ENSP00000389060.1:p.Cys262Trp | |
NM_015702.2:c.786T>G | NP_056517.1:p.Cys262Trp | |
NM_015702.3:c.786T>G MANE Select | NP_056517.1:p.Cys262Trp |