HGVS | Genome Assembly |
---|---|
NC_000001.11:g.55043744T>C , CM000663.2:g.55043744T>C | GRCh38 |
NC_000001.10:g.55509417T>C , CM000663.1:g.55509417T>C | GRCh37 |
NC_000001.9:g.55282005T>C | NCBI36 |
NG_009061.1:g.9198T>C , LRG_275:g.9198T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000673913.2:c.208-99T>C | ENSP00000501161.2:n.208-99T>C | |
ENST00000710286.1:c.565-99T>C | ENSP00000518176.1:n.565-99T>C | |
ENST00000673726.1:c.208-99T>C | ENSP00000501004.1:n.208-99T>C | |
ENST00000673903.1:c.-168-99T>C | ENSP00000501257.1:n.-168-99T>C | |
ENST00000302118.5:c.208-99T>C MANE Select | ENSP00000303208.5:n.208-99T>C | |
NM_174936.3:c.208-99T>C , LRG_275t1:c.208-99T>C | NP_777596.2:n.208-99T>C | |
NR_110451.1:n.182+3341T>C | ||
NM_174936.4:c.208-99T>C MANE Select | NP_777596.2:n.208-99T>C | |
NR_110451.2:n.182+3341T>C |