HGVS | Genome Assembly |
---|---|
NC_000001.11:g.55063790G>C , CM000663.2:g.55063790G>C | GRCh38 |
NC_000001.10:g.55529463G>C , CM000663.1:g.55529463G>C | GRCh37 |
NC_000001.9:g.55302051G>C | NCBI36 |
NG_009061.1:g.29244G>C , LRG_275:g.29244G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000673913.2:c.*625G>C | ENSP00000501161.2:n.*625G>C | |
ENST00000710286.1:c.*206G>C | ENSP00000518176.1:n.*206G>C | |
ENST00000673903.1:c.*206G>C | ENSP00000501257.1:n.*206G>C | |
ENST00000302118.5:c.*206G>C MANE Select | ENSP00000303208.5:n.*206G>C | |
ENST00000490692.1:n.2831G>C | ||
NM_174936.3:c.*206G>C , LRG_275t1:c.*206G>C | NP_777596.2:n.*206G>C | |
NR_110451.1:n.1892G>C | ||
XM_011541193.1:c.*206G>C | XP_011539495.1:n.*206G>C | |
NM_174936.4:c.*206G>C MANE Select | NP_777596.2:n.*206G>C | |
NR_110451.2:n.1892G>C |