HGVS | Genome Assembly |
---|---|
NC_000001.11:g.94021023A>G , CM000663.2:g.94021023A>G | GRCh38 |
NC_000001.10:g.94486579A>G , CM000663.1:g.94486579A>G | GRCh37 |
NC_000001.9:g.94259167A>G | NCBI36 |
NG_009073.1:g.105127T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000370225.4:c.5018+217T>C MANE Select | ENSP00000359245.3:n.5018+217T>C | |
ENST00000370225.3:c.5018+217T>C | ENSP00000359245.3:n.5018+217T>C | |
ENST00000460514.1:n.512+217T>C | ||
ENST00000470771.1:n.128+217T>C | ||
ENST00000536513.5:c.1394+217T>C | ENSP00000439707.2:n.1394+217T>C | |
NM_000350.2:c.5018+217T>C | NP_000341.2:n.5018+217T>C | |
NM_000350.3:c.5018+217T>C MANE Select | NP_000341.2:n.5018+217T>C |