HGVS | Genome Assembly |
---|---|
NC_000019.10:g.6710844A>T , CM000681.2:g.6710844A>T | GRCh38 |
NC_000019.9:g.6710855A>T , CM000681.1:g.6710855A>T | GRCh37 |
NC_000019.8:g.6661855A>T | NCBI36 |
NG_009557.1:g.14808T>A , LRG_27:g.14808T>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000695652.1:c.1358T>A | ENSP00000512083.1:p.Ile453Asn | |
ENST00000695654.1:c.605T>A | ENSP00000512085.1:p.Ile202Asn | |
ENST00000695655.1:c.386T>A | ENSP00000512086.1:p.Ile129Asn | |
ENST00000695692.1:n.845T>A | ||
ENST00000245907.11:c.1481T>A MANE Select | ENSP00000245907.4:p.Ile494Asn | |
ENST00000245907.10:c.1481T>A | ENSP00000245907.4:p.Ile494Asn | |
ENST00000600763.1:n.114T>A | ||
NM_000064.3:c.1481T>A | NP_000055.2:p.Ile494Asn | |
NM_000064.4:c.1481T>A MANE Select | NP_000055.2:p.Ile494Asn |