HGVS | Genome Assembly |
---|---|
NC_000010.11:g.70435545G>T , CM000672.2:g.70435545G>T | GRCh38 |
NC_000010.10:g.72195301G>T , CM000672.1:g.72195301G>T | GRCh37 |
NC_000010.9:g.71865307G>T | NCBI36 |
NG_012448.1:g.11165C>A | |
NG_012448.2:g.17404C>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000287139.8:c.632C>A MANE Select | ENSP00000287139.3:p.Thr211Asn | |
ENST00000287139.7:c.632C>A | ENSP00000287139.3:p.Thr211Asn | |
ENST00000414871.1:c.467C>A | ENSP00000394468.1:p.Thr156Asn | |
NM_018055.4:c.632C>A | NP_060525.3:p.Thr211Asn | |
NM_001329906.1:c.233C>A | NP_001316835.1:p.Thr78Asn | |
XM_024448028.1:c.233C>A | XP_024303796.1:p.Thr78Asn | |
NM_018055.5:c.632C>A MANE Select | NP_060525.3:p.Thr211Asn | |
NM_001329906.2:c.233C>A | NP_001316835.1:p.Thr78Asn |