HGVS | Genome Assembly |
---|---|
NC_000017.11:g.41583010A>G , CM000679.2:g.41583010A>G | GRCh38 |
NC_000017.10:g.39739262A>G , CM000679.1:g.39739262A>G | GRCh37 |
NC_000017.9:g.36992788A>G | NCBI36 |
NG_008624.1:g.8886T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000167586.7:c.1321+84T>C MANE Select | ENSP00000167586.6:n.1321+84T>C | |
ENST00000167586.6:c.1321+84T>C | ENSP00000167586.6:n.1321+84T>C | |
ENST00000441550.2:n.352T>C | ||
NM_000526.4:c.1321+84T>C | NP_000517.2:n.1321+84T>C | |
NM_000526.5:c.1321+84T>C MANE Select | NP_000517.3:n.1321+84T>C |