HGVS | Genome Assembly |
---|---|
NC_000021.9:g.43774157G>T , CM000683.2:g.43774157G>T | GRCh38 |
NC_000021.8:g.45194038G>T , CM000683.1:g.45194038G>T | GRCh37 |
NC_000021.7:g.44018466G>T | NCBI36 |
NG_011545.1:g.7222C>A , LRG_485:g.7222C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000291568.7:c.*45C>A MANE Select | ENSP00000291568.6:n.*45C>A | |
ENST00000480147.3:n.2112C>A | ||
ENST00000639959.1:c.209C>A | ||
ENST00000640406.1:c.*417C>A | ENSP00000492672.1:n.*417C>A | |
ENST00000675996.1:n.767C>A | ||
ENST00000291568.5:c.*45C>A | ENSP00000291568.5:n.*45C>A | |
NM_000100.3:c.*45C>A , LRG_485t1:c.*45C>A | NP_000091.1:n.*45C>A | |
NM_000100.4:c.*45C>A MANE Select | NP_000091.1:n.*45C>A |