HGVS | Genome Assembly |
---|---|
NC_000021.9:g.43774109T>A , CM000683.2:g.43774109T>A | GRCh38 |
NC_000021.8:g.45193990T>A , CM000683.1:g.45193990T>A | GRCh37 |
NC_000021.7:g.44018418T>A | NCBI36 |
NG_011545.1:g.7270A>T , LRG_485:g.7270A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000291568.7:c.*93A>T MANE Select | ENSP00000291568.6:n.*93A>T | |
ENST00000480147.3:n.2160A>T | ||
ENST00000639959.1:c.257A>T | ||
ENST00000640406.1:c.*465A>T | ENSP00000492672.1:n.*465A>T | |
ENST00000675996.1:n.815A>T | ||
ENST00000291568.5:c.*93A>T | ENSP00000291568.5:n.*93A>T | |
NM_000100.3:c.*93A>T , LRG_485t1:c.*93A>T | NP_000091.1:n.*93A>T | |
NM_000100.4:c.*93A>T MANE Select | NP_000091.1:n.*93A>T |