HGVS | Genome Assembly |
---|---|
NC_000001.11:g.55052752A>C , CM000663.2:g.55052752A>C | GRCh38 |
NC_000001.10:g.55518425A>C , CM000663.1:g.55518425A>C | GRCh37 |
NC_000001.9:g.55291013A>C | NCBI36 |
NG_009061.1:g.18206A>C , LRG_275:g.18206A>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000673913.2:c.760A>C | ENSP00000501161.2:p.Asn254His | |
ENST00000710286.1:c.1117A>C | ENSP00000518176.1:p.Asn373His | |
ENST00000673903.1:c.385A>C | ENSP00000501257.1:p.Asn129His | |
ENST00000302118.5:c.760A>C MANE Select | ENSP00000303208.5:p.Asn254His | |
ENST00000490692.1:n.1581A>C | ||
NM_174936.3:c.760A>C , LRG_275t1:c.760A>C | NP_777596.2:p.Asn254His | |
NR_110451.1:n.419A>C | ||
NM_174936.4:c.760A>C MANE Select | NP_777596.2:p.Asn254His | |
NR_110451.2:n.419A>C |