HGVS | Genome Assembly |
---|---|
NC_000017.11:g.34256266A>T , CM000679.2:g.34256266A>T | GRCh38 |
NC_000017.10:g.32583285A>T , CM000679.1:g.32583285A>T | GRCh37 |
NC_000017.9:g.29607398A>T | NCBI36 |
NG_012123.1:g.5990A>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000580907.6:c.121A>T | ENSP00000462156.1:p.Arg41Trp | |
ENST00000624362.2:n.982A>T | ||
ENST00000225831.4:c.121A>T MANE Select | ENSP00000225831.4:p.Arg41Trp | |
ENST00000580907.5:c.121A>T | ENSP00000462156.1:p.Arg41Trp | |
ENST00000582017.1:n.59A>T | ||
NM_002982.3:c.121A>T | NP_002973.1:p.Arg41Trp | |
NM_002982.4:c.121A>T MANE Select | NP_002973.1:p.Arg41Trp |