HGVS | Genome Assembly |
---|---|
NC_000001.11:g.94002131C>G , CM000663.2:g.94002131C>G | GRCh38 |
NC_000001.10:g.94467687C>G , CM000663.1:g.94467687C>G | GRCh37 |
NC_000001.9:g.94240275C>G | NCBI36 |
NG_009073.1:g.124019G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000370225.4:c.6148-139G>C MANE Select | ENSP00000359245.3:n.6148-139G>C | |
ENST00000370225.3:c.6148-139G>C | ENSP00000359245.3:n.6148-139G>C | |
ENST00000465352.1:n.564-139G>C | ||
ENST00000536513.5:c.2524-139G>C | ENSP00000439707.2:n.2524-139G>C | |
NM_000350.2:c.6148-139G>C | NP_000341.2:n.6148-139G>C | |
NM_000350.3:c.6148-139G>C MANE Select | NP_000341.2:n.6148-139G>C |