HGVS | Genome Assembly |
---|---|
NC_000014.9:g.91272633A>G , CM000676.2:g.91272633A>G | GRCh38 |
NC_000014.8:g.91738977A>G , CM000676.1:g.91738977A>G | GRCh37 |
NC_000014.7:g.90808730A>G | NCBI36 |
NG_033118.1:g.150212T>C | |
NG_033118.2:g.150212T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000389857.11:c.6079T>C MANE Select | ENSP00000374507.6:p.Cys2027Arg | |
ENST00000331194.8:c.1513T>C | ENSP00000330332.8:p.Cys505Arg | |
ENST00000389857.10:c.6079T>C | ENSP00000374507.6:p.Cys2027Arg | |
ENST00000556726.5:c.2307T>C | ||
NM_001080414.3:c.6079T>C | NP_001073883.2:p.Cys2027Arg | |
XM_011536796.1:c.5971T>C | XP_011535098.1:p.Cys1991Arg | |
XM_011536796.2:c.5971T>C | XP_011535098.1:p.Cys1991Arg | |
XM_017021336.1:c.3160T>C | XP_016876825.1:p.Cys1054Arg | |
NM_001080414.4:c.6079T>C MANE Select | NP_001073883.2:p.Cys2027Arg |