HGVS | Genome Assembly |
---|---|
NC_000001.11:g.55052752A>G , CM000663.2:g.55052752A>G | GRCh38 |
NC_000001.10:g.55518425A>G , CM000663.1:g.55518425A>G | GRCh37 |
NC_000001.9:g.55291013A>G | NCBI36 |
NG_009061.1:g.18206A>G , LRG_275:g.18206A>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000673913.2:c.760A>G | ENSP00000501161.2:p.Asn254Asp | |
ENST00000710286.1:c.1117A>G | ENSP00000518176.1:p.Asn373Asp | |
ENST00000673903.1:c.385A>G | ENSP00000501257.1:p.Asn129Asp | |
ENST00000302118.5:c.760A>G MANE Select | ENSP00000303208.5:p.Asn254Asp | |
ENST00000490692.1:n.1581A>G | ||
NM_174936.3:c.760A>G , LRG_275t1:c.760A>G | NP_777596.2:p.Asn254Asp | |
NR_110451.1:n.419A>G | ||
NM_174936.4:c.760A>G MANE Select | NP_777596.2:p.Asn254Asp | |
NR_110451.2:n.419A>G |