HGVS | Genome Assembly |
---|---|
NC_000014.9:g.77518108G>C , CM000676.2:g.77518108G>C | GRCh38 |
NC_000014.8:g.77984451G>C , CM000676.1:g.77984451G>C | GRCh37 |
NC_000014.7:g.77054204G>C | NCBI36 |
NG_028282.1:g.103660C>G , LRG_371:g.103660C>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000686627.1:n.531C>G | ||
ENST00000687688.1:n.1262C>G | ||
ENST00000692906.1:n.1231C>G | ||
ENST00000216484.7:c.1499C>G MANE Select | ENSP00000216484.2:p.Ala500Gly | |
ENST00000216484.6:c.1499C>G | ENSP00000216484.2:p.Ala500Gly | |
ENST00000556607.1:c.327C>G | ENSP00000451029.1:n.327C>G | |
NM_004863.3:c.1499C>G , LRG_371t1:c.1499C>G | NP_004854.1:p.Ala500Gly | |
NM_004863.4:c.1499C>G MANE Select | NP_004854.1:p.Ala500Gly |