HGVS | Genome Assembly |
---|---|
NC_000001.11:g.197039095T>C , CM000663.2:g.197039095T>C | GRCh38 |
NC_000001.10:g.197008225T>C , CM000663.1:g.197008225T>C | GRCh37 |
NC_000001.9:g.195274848T>C | NCBI36 |
NG_012065.1:g.33173A>G , LRG_550:g.33173A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000367412.2:c.*283A>G MANE Select | ENSP00000356382.2:n.*283A>G | |
ENST00000649282.1:c.1024A>G | ENSP00000497116.1:n.1024A>G | |
XM_011509283.2:c.*1204A>G | XP_011507585.1:n.*1204A>G | |
XM_011509284.2:c.*1204A>G | XP_011507586.1:n.*1204A>G | |
XM_011509286.2:c.*1204A>G | XP_011507588.1:n.*1204A>G | |
NM_001994.3:c.*283A>G MANE Select | NP_001985.2:n.*283A>G |