HGVS | Genome Assembly |
---|---|
NC_000002.12:g.85697606C>A , CM000664.2:g.85697606C>A | GRCh38 |
NC_000002.11:g.85924729C>A , CM000664.1:g.85924729C>A | GRCh37 |
NC_000002.10:g.85778240C>A | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000263863.9:c.356C>A MANE Select | ENSP00000263863.5:p.Thr119Asn | |
ENST00000263863.8:c.356C>A | ENSP00000263863.4:p.Thr119Asn | |
ENST00000409696.7:c.311C>A | ENSP00000387116.3:p.Thr104Asn | |
ENST00000489980.5:n.1800C>A | ||
ENST00000524600.5:c.437C>A | ENSP00000436423.1:p.Thr146Asn | |
ENST00000526018.1:c.256C>A | ||
NM_001302758.1:c.437C>A | NP_001289687.1:p.Thr146Asn | |
NM_006433.4:c.356C>A | NP_006424.2:p.Thr119Asn | |
NM_012483.3:c.311C>A | NP_036615.2:p.Thr104Asn | |
XM_005264084.2:c.337-958C>A | XP_005264141.1:n.337-958C>A | |
XM_005264085.2:c.256-958C>A | XP_005264142.1:n.256-958C>A | |
XM_005264087.2:c.211-958C>A | XP_005264144.1:n.211-958C>A | |
NM_001302758.2:c.437C>A | NP_001289687.1:p.Thr146Asn | |
NM_006433.5:c.356C>A MANE Select | NP_006424.2:p.Thr119Asn | |
NM_012483.4:c.311C>A | NP_036615.2:p.Thr104Asn |