HGVS | Genome Assembly |
---|---|
NC_000021.9:g.43774652C>A , CM000683.2:g.43774652C>A | GRCh38 |
NC_000021.8:g.45194533C>A , CM000683.1:g.45194533C>A | GRCh37 |
NC_000021.7:g.44018961C>A | NCBI36 |
NG_011545.1:g.6727G>T , LRG_485:g.6727G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000291568.7:c.168+6G>T MANE Select | ENSP00000291568.6:n.168+6G>T | |
ENST00000480147.3:n.1617G>T | ||
ENST00000639959.1:c.36-322G>T | ||
ENST00000640406.1:c.174G>T | ENSP00000492672.1:p.Glu58Asp | |
ENST00000675996.1:n.593+6G>T | ||
ENST00000291568.5:c.168+6G>T | ENSP00000291568.5:n.168+6G>T | |
ENST00000480147.1:n.211G>T | ||
NM_000100.3:c.168+6G>T , LRG_485t1:c.168+6G>T | NP_000091.1:n.168+6G>T | |
NM_000100.4:c.168+6G>T MANE Select | NP_000091.1:n.168+6G>T |