HGVS | Genome Assembly |
---|---|
NC_000014.9:g.91999420C>T , CM000676.2:g.91999420C>T | GRCh38 |
NC_000014.8:g.92465764C>T , CM000676.1:g.92465764C>T | GRCh37 |
NC_000014.7:g.91535517C>T | NCBI36 |
NG_016970.1:g.45640G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000267622.8:c.4712G>A MANE Select | ENSP00000267622.4:p.Arg1571His | |
ENST00000554357.5:c.3858G>A | ||
NM_004239.3:c.4712G>A | NP_004230.2:p.Arg1571His | |
XM_005268214.2:c.3386G>A | XP_005268271.1:p.Arg1129His | |
XM_005268215.2:c.1682G>A | XP_005268272.1:p.Arg561His | |
XM_006720321.2:c.4709G>A | XP_006720384.1:p.Arg1570His | |
XM_011537361.1:c.4712G>A | XP_011535663.1:p.Arg1571His | |
XR_943560.1:n.5167G>A | ||
NM_001321851.1:c.4709G>A | NP_001308780.1:p.Arg1570His | |
NM_004239.4:c.4712G>A MANE Select | NP_004230.2:p.Arg1571His | |
XM_017021787.2:c.4007G>A | XP_016877276.1:p.Arg1336His | |
XM_017021788.2:c.3386G>A | XP_016877277.1:p.Arg1129His | |
XR_001750598.2:n.5161G>A | ||
XR_943560.2:n.5161G>A |