HGVS | Genome Assembly |
---|---|
NC_000001.11:g.154571252C>G , CM000663.2:g.154571252C>G | GRCh38 |
NC_000001.10:g.154543728C>G , CM000663.1:g.154543728C>G | GRCh37 |
NC_000001.9:g.152810352C>G | NCBI36 |
NG_008027.1:g.8472C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000368476.4:c.429C>G MANE Select | ENSP00000357461.3:p.Ile143Met | |
ENST00000636034.1:c.429C>G | ENSP00000489703.1:p.Ile143Met | |
ENST00000637900.1:c.435C>G | ENSP00000490474.1:p.Ile145Met | |
ENST00000368476.3:c.429C>G | ENSP00000357461.3:p.Ile143Met | |
NM_000748.2:c.429C>G | NP_000739.1:p.Ile143Met | |
XM_017000180.2:c.-9-73C>G | XP_016855669.1:n.-9-73C>G | |
XR_001736952.2:n.681C>G | ||
NM_000748.3:c.429C>G MANE Select | NP_000739.1:p.Ile143Met |