HGVS | Genome Assembly |
---|---|
NC_000011.10:g.47337447A>C , CM000673.2:g.47337447A>C | GRCh38 |
NC_000011.9:g.47358998A>C , CM000673.1:g.47358998A>C | GRCh37 |
NC_000011.8:g.47315574A>C | NCBI36 |
NG_007667.1:g.20256T>G , LRG_386:g.20256T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000545968.6:c.2546T>G MANE Select | ENSP00000442795.1:p.Val849Gly | |
ENST00000256993.8:c.2546T>G | ENSP00000256993.5:p.Val849Gly | |
ENST00000399249.6:c.2546T>G | ENSP00000382193.2:p.Val849Gly | |
ENST00000544791.1:c.*51T>G | ENSP00000444259.1:n.*51T>G | |
ENST00000545968.5:c.2546T>G | ENSP00000442795.1:p.Val849Gly | |
NM_000256.3:c.2546T>G , LRG_386t1:c.2546T>G MANE Select | NP_000247.2:p.Val849Gly | |
XM_011520117.1:c.2528T>G | XP_011518419.1:p.Val843Gly | |
XM_011520118.1:c.2465T>G | XP_011518420.1:p.Val822Gly |