HGVS | Genome Assembly |
---|---|
NC_000001.11:g.17022652A>T , CM000663.2:g.17022652A>T | GRCh38 |
NC_000001.10:g.17349147A>T , CM000663.1:g.17349147A>T | GRCh37 |
NC_000001.9:g.17221734A>T | NCBI36 |
NG_012340.1:g.36519T>A , LRG_316:g.36519T>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000463045.3:c.550T>A | ENSP00000481376.2:p.Tyr184Asn | |
ENST00000491274.6:c.679T>A | ENSP00000480482.2:p.Tyr227Asn | |
ENST00000375499.8:c.721T>A MANE Select | ENSP00000364649.3:p.Tyr241Asn | |
ENST00000375499.7:c.721T>A | ENSP00000364649.3:p.Tyr241Asn | |
ENST00000475049.5:n.146T>A | ||
ENST00000485092.5:n.385T>A | ||
ENST00000485515.5:n.655T>A | ||
NM_003000.2:c.721T>A , LRG_316t1:c.721T>A | NP_002991.2:p.Tyr241Asn | |
NM_003000.3:c.721T>A MANE Select | NP_002991.2:p.Tyr241Asn |