HGVS | Genome Assembly |
---|---|
NC_000015.10:g.48474368T>G , CM000677.2:g.48474368T>G | GRCh38 |
NC_000015.9:g.48766565T>G , CM000677.1:g.48766565T>G | GRCh37 |
NC_000015.8:g.46553857T>G | NCBI36 |
NG_008805.2:g.176421A>C , LRG_778:g.176421A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000559133.6:c.4097A>C | ENSP00000453958.2:p.Glu1366Ala | |
ENST00000674301.2:c.4097A>C | ENSP00000501333.2:p.Glu1366Ala | |
ENST00000684448.1:n.2771A>C | ||
ENST00000316623.10:c.4097A>C MANE Select | ENSP00000325527.5:p.Glu1366Ala | |
ENST00000316623.9:c.4097A>C | ENSP00000325527.5:p.Glu1366Ala | |
ENST00000537463.6:c.769A>C | ENSP00000440294.2:p.Asn257His | |
NM_000138.4:c.4097A>C , LRG_778t1:c.4097A>C | NP_000129.3:p.Glu1366Ala | |
NM_000138.5:c.4097A>C MANE Select | NP_000129.3:p.Glu1366Ala |