HGVS | Genome Assembly |
---|---|
NC_000021.9:g.43774202T>G , CM000683.2:g.43774202T>G | GRCh38 |
NC_000021.8:g.45194083T>G , CM000683.1:g.45194083T>G | GRCh37 |
NC_000021.7:g.44018511T>G | NCBI36 |
NG_011545.1:g.7177A>C , LRG_485:g.7177A>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000291568.7:c.297A>C MANE Select | ENSP00000291568.6:p.Ter99Cys | |
ENST00000480147.3:n.2067A>C | ||
ENST00000639959.1:c.164A>C | ||
ENST00000640406.1:c.*372A>C | ENSP00000492672.1:n.*372A>C | |
ENST00000675996.1:n.722A>C | ||
ENST00000291568.5:c.297A>C | ENSP00000291568.5:p.Ter99Cys | |
ENST00000480147.1:n.661A>C | ||
NM_000100.3:c.297A>C , LRG_485t1:c.297A>C | NP_000091.1:p.Ter99Cys | |
NM_000100.4:c.297A>C MANE Select | NP_000091.1:p.Ter99Cys |