HGVS | Genome Assembly |
---|---|
NC_000015.10:g.48465828T>G , CM000677.2:g.48465828T>G | GRCh38 |
NC_000015.9:g.48758025T>G , CM000677.1:g.48758025T>G | GRCh37 |
NC_000015.8:g.46545317T>G | NCBI36 |
NG_008805.2:g.184961A>C , LRG_778:g.184961A>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000559133.6:c.4778A>C | ENSP00000453958.2:p.Glu1593Ala | |
ENST00000674301.2:c.4778A>C | ENSP00000501333.2:p.Glu1593Ala | |
ENST00000684448.1:n.3452A>C | ||
ENST00000316623.10:c.4778A>C MANE Select | ENSP00000325527.5:p.Glu1593Ala | |
ENST00000316623.9:c.4778A>C | ENSP00000325527.5:p.Glu1593Ala | |
ENST00000537463.6:c.*541A>C | ENSP00000440294.2:n.*541A>C | |
ENST00000559133.5:c.85A>C | ||
NM_000138.4:c.4778A>C , LRG_778t1:c.4778A>C | NP_000129.3:p.Glu1593Ala | |
NM_000138.5:c.4778A>C MANE Select | NP_000129.3:p.Glu1593Ala |