HGVS | Genome Assembly |
---|---|
NC_000023.11:g.47624401G>A , CM000685.2:g.47624401G>A | GRCh38 |
NC_000023.10:g.47483800G>A , CM000685.1:g.47483800G>A | GRCh37 |
NC_000023.9:g.47368744G>A | NCBI36 |
NG_008437.1:g.457C>T | |
NG_009893.1:g.10905C>T , LRG_129:g.10905C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000396992.8:c.1284C>T MANE Select | ENSP00000380189.3:p.Asn428= | |
ENST00000640573.1:n.1522C>T | ||
ENST00000247153.7:c.1284C>T | ENSP00000247153.3:p.Asn428= | |
ENST00000396992.7:c.1284C>T | ENSP00000380189.3:p.Asn428= | |
ENST00000478222.1:n.405C>T | ||
NM_001145252.1:c.1284C>T | NP_001138724.1:p.Asn428= | |
NM_002621.2:c.1284C>T , LRG_129t1:c.1284C>T | NP_002612.1:p.Asn428= | |
XM_017029575.1:c.879C>T | XP_016885064.1:p.Asn293= | |
NM_001145252.3:c.1284C>T MANE Select | NP_001138724.1:p.Asn428= |