HGVS | Genome Assembly |
---|---|
NC_000015.10:g.22786792T>C , CM000677.2:g.22786792T>C | GRCh38 |
NC_000015.9:g.23086276A>G , CM000677.1:g.23086276A>G | GRCh37 |
NC_000015.8:g.20637717A>G | NCBI36 |
NG_009056.1:g.5568T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000337435.9:c.136T>C MANE Select | ENSP00000337452.4:p.Phe46Leu | |
ENST00000337435.8:c.136T>C | ENSP00000337452.4:p.Phe46Leu | |
ENST00000437912.6:c.-48+12479T>C | ENSP00000393962.2:n.-48+12479T>C | |
ENST00000559448.5:c.26T>C | ||
ENST00000560069.5:n.31+544T>C | ||
ENST00000560105.1:n.35T>C | ||
ENST00000561183.5:c.-48+544T>C | ENSP00000453722.1:n.-48+544T>C | |
NM_001142275.1:c.-48+544T>C | NP_001135747.1:n.-48+544T>C | |
NM_144599.4:c.136T>C | NP_653200.2:p.Phe46Leu | |
NM_144599.5:c.136T>C MANE Select | NP_653200.2:p.Phe46Leu |