HGVS | Genome Assembly |
---|---|
NC_000017.11:g.41586444C>T , CM000679.2:g.41586444C>T | GRCh38 |
NC_000017.10:g.39742696C>T , CM000679.1:g.39742696C>T | GRCh37 |
NC_000017.9:g.36996222C>T | NCBI36 |
NG_008624.1:g.5452G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000167586.7:c.391G>A MANE Select | ENSP00000167586.6:p.Asp131Asn | |
ENST00000167586.6:c.391G>A | ENSP00000167586.6:p.Asp131Asn | |
NM_000526.4:c.391G>A | NP_000517.2:p.Asp131Asn | |
NM_000526.5:c.391G>A MANE Select | NP_000517.3:p.Asp131Asn |