HGVS | Genome Assembly |
---|---|
NC_000021.9:g.43774305A>G , CM000683.2:g.43774305A>G | GRCh38 |
NC_000021.8:g.45194186A>G , CM000683.1:g.45194186A>G | GRCh37 |
NC_000021.7:g.44018614A>G | NCBI36 |
NG_011545.1:g.7074T>C , LRG_485:g.7074T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000291568.7:c.194T>C MANE Select | ENSP00000291568.6:p.Val65Ala | |
ENST00000480147.3:n.1964T>C | ||
ENST00000639959.1:c.61T>C | ||
ENST00000640406.1:c.*269T>C | ENSP00000492672.1:n.*269T>C | |
ENST00000675996.1:n.619T>C | ||
ENST00000291568.5:c.194T>C | ENSP00000291568.5:p.Val65Ala | |
ENST00000480147.1:n.558T>C | ||
NM_000100.3:c.194T>C , LRG_485t1:c.194T>C | NP_000091.1:p.Val65Ala | |
NM_000100.4:c.194T>C MANE Select | NP_000091.1:p.Val65Ala |