HGVS | Genome Assembly |
---|---|
NC_000015.10:g.48474328G>T , CM000677.2:g.48474328G>T | GRCh38 |
NC_000015.9:g.48766525G>T , CM000677.1:g.48766525G>T | GRCh37 |
NC_000015.8:g.46553817G>T | NCBI36 |
NG_008805.2:g.176461C>A , LRG_778:g.176461C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000559133.6:c.4137C>A | ENSP00000453958.2:p.Asp1379Glu | |
ENST00000674301.2:c.4137C>A | ENSP00000501333.2:p.Asp1379Glu | |
ENST00000684448.1:n.2811C>A | ||
ENST00000316623.10:c.4137C>A MANE Select | ENSP00000325527.5:p.Asp1379Glu | |
ENST00000316623.9:c.4137C>A | ENSP00000325527.5:p.Asp1379Glu | |
ENST00000537463.6:c.809C>A | ENSP00000440294.2:p.Thr270Asn | |
NM_000138.4:c.4137C>A , LRG_778t1:c.4137C>A | NP_000129.3:p.Asp1379Glu | |
NM_000138.5:c.4137C>A MANE Select | NP_000129.3:p.Asp1379Glu |