HGVS | Genome Assembly |
---|---|
NC_000018.10:g.49962255A>C , CM000680.2:g.49962255A>C | GRCh38 |
NC_000018.9:g.47488625A>C , CM000680.1:g.47488625A>C | GRCh37 |
NC_000018.8:g.45742623A>C | NCBI36 |
NG_012925.1:g.237827T>G | |
NG_012925.2:g.237827T>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000697219.1:c.1342+11T>G | ||
ENST00000285039.12:c.1545+11T>G MANE Select | ENSP00000285039.6:n.1545+11T>G | |
ENST00000285039.11:c.1545+11T>G | ENSP00000285039.6:n.1545+11T>G | |
ENST00000616031.4:c.1542+11T>G | ENSP00000479038.1:n.1542+11T>G | |
NM_001080467.2:c.1545+11T>G | NP_001073936.1:n.1545+11T>G | |
NM_001080467.3:c.1545+11T>G MANE Select | NP_001073936.1:n.1545+11T>G |