HGVS | Genome Assembly |
---|---|
NC_000017.11:g.34256266A>C , CM000679.2:g.34256266A>C | GRCh38 |
NC_000017.10:g.32583285A>C , CM000679.1:g.32583285A>C | GRCh37 |
NC_000017.9:g.29607398A>C | NCBI36 |
NG_012123.1:g.5990A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000580907.6:c.121A>C | ENSP00000462156.1:p.Arg41= | |
ENST00000624362.2:n.982A>C | ||
ENST00000225831.4:c.121A>C MANE Select | ENSP00000225831.4:p.Arg41= | |
ENST00000580907.5:c.121A>C | ENSP00000462156.1:p.Arg41= | |
ENST00000582017.1:n.59A>C | ||
NM_002982.3:c.121A>C | NP_002973.1:p.Arg41= | |
NM_002982.4:c.121A>C MANE Select | NP_002973.1:p.Arg41= |