HGVS | Genome Assembly |
---|---|
NC_000001.11:g.97883329A>G , CM000663.2:g.97883329A>G | GRCh38 |
NG_008807.2:g.42731T>C , LRG_722:g.42731T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000370192.8:c.85T>C MANE Select | ENSP00000359211.3:p.Cys29Arg | |
ENST00000646851.1:n.734T>C | ||
ENST00000306031.5:c.85T>C | ENSP00000307107.5:p.Cys29Arg | |
ENST00000370192.7:c.85T>C | ENSP00000359211.3:p.Cys29Arg | |
ENST00000460019.1:n.160T>C | ||
NM_000110.3:c.85T>C , LRG_722t1:c.85T>C | NP_000101.2:p.Cys29Arg | |
NM_001160301.1:c.85T>C , LRG_722t2:c.85T>C | NP_001153773.1:p.Cys29Arg | |
XM_005270562.3:c.85T>C | XP_005270619.2:p.Cys29Arg | |
XM_006710397.2:c.85T>C | XP_006710460.1:p.Cys29Arg | |
XM_006710397.3:c.85T>C | XP_006710460.1:p.Cys29Arg | |
XM_017000507.1:c.39+37555T>C | XP_016855996.1:n.39+37555T>C | |
XM_017000508.2:c.-626T>C | XP_016855997.1:n.-626T>C | |
XM_017000509.2:c.-524T>C | XP_016855998.1:n.-524T>C | |
XM_017000510.1:c.-459+37555T>C | XP_016855999.1:n.-459+37555T>C | |
XR_001737014.1:n.222T>C | ||
NM_000110.4:c.85T>C MANE Select | NP_000101.2:p.Cys29Arg |