HGVS | Genome Assembly |
---|---|
NC_000018.10:g.49974450T>G , CM000680.2:g.49974450T>G | GRCh38 |
NC_000018.9:g.47500820T>G , CM000680.1:g.47500820T>G | GRCh37 |
NC_000018.8:g.45754818T>G | NCBI36 |
NG_012925.1:g.225632A>C | |
NG_012925.2:g.225632A>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000697219.1:c.1019A>C | ||
ENST00000285039.12:c.1222A>C MANE Select | ENSP00000285039.6:p.Ile408Leu | |
ENST00000285039.11:c.1222A>C | ENSP00000285039.6:p.Ile408Leu | |
ENST00000616031.4:c.1219A>C | ENSP00000479038.1:p.Ile407Leu | |
NM_001080467.2:c.1222A>C | NP_001073936.1:p.Ile408Leu | |
NM_001080467.3:c.1222A>C MANE Select | NP_001073936.1:p.Ile408Leu |