HGVS | Genome Assembly |
---|---|
NC_000001.11:g.70439117G>A , CM000663.2:g.70439117G>A | GRCh38 |
NC_000001.10:g.70904800G>A , CM000663.1:g.70904800G>A | GRCh37 |
NC_000001.9:g.70677388G>A | NCBI36 |
NG_008041.1:g.32846G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000370938.8:c.1208G>A MANE Select | ENSP00000359976.3:p.Ser403Asn | |
ENST00000346806.2:c.1076G>A | ENSP00000311554.2:p.Ser359Asn | |
ENST00000370938.7:c.1208G>A | ENSP00000359976.3:p.Ser403Asn | |
ENST00000411986.6:c.1112G>A | ENSP00000413407.2:p.Ser371Asn | |
ENST00000482383.1:n.483G>A | ||
NM_001190463.1:c.1112G>A | NP_001177392.1:p.Ser371Asn | |
NM_001902.5:c.1208G>A | NP_001893.2:p.Ser403Asn | |
NM_153742.4:c.1076G>A | NP_714964.2:p.Ser359Asn | |
XM_005270509.2:c.881G>A | XP_005270566.1:p.Ser294Asn | |
XM_011540787.1:c.638G>A | XP_011539089.1:p.Ser213Asn | |
XM_005270509.3:c.881G>A | XP_005270566.1:p.Ser294Asn | |
XM_017000416.2:c.638G>A | XP_016855905.1:p.Ser213Asn | |
NM_001902.6:c.1208G>A MANE Select | NP_001893.2:p.Ser403Asn | |
NM_001190463.2:c.1112G>A | NP_001177392.1:p.Ser371Asn | |
NM_153742.5:c.1076G>A | NP_714964.2:p.Ser359Asn |