HGVS | Genome Assembly |
---|---|
NC_000015.10:g.48474588C= , CM000677.2:g.48474588C= | GRCh38 |
NC_000015.9:g.48766785C= , CM000677.1:g.48766785C= | GRCh37 |
NC_000015.8:g.46554077C= | NCBI36 |
NG_008805.2:g.176201G= , LRG_778:g.176201G= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000559133.6:c.4027G= | ENSP00000453958.2:p.Ala1343= | |
ENST00000674301.2:c.4027G= | ENSP00000501333.2:p.Ala1343= | |
ENST00000684448.1:n.2701G= | ||
ENST00000316623.10:c.4027G= MANE Select | ENSP00000325527.5:p.Ala1343= | |
ENST00000316623.9:c.4027G= | ENSP00000325527.5:p.Ala1343= | |
ENST00000537463.6:c.699G= | ENSP00000440294.2:p.Gln233= | |
NM_000138.4:c.4027G= , LRG_778t1:c.4027G= | NP_000129.3:p.Ala1343= | |
NM_000138.5:c.4027G= MANE Select | NP_000129.3:p.Ala1343= |