HGVS | Genome Assembly |
---|---|
NC_000009.12:g.136674800A>T , CM000671.2:g.136674800A>T | GRCh38 |
NC_000009.11:g.139569252A>T , CM000671.1:g.139569252A>T | GRCh37 |
NC_000009.10:g.138689073A>T | NCBI36 |
NG_008090.1:g.17660T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000371696.7:c.596T>A MANE Select | ENSP00000360761.2:p.Ile199Asn | |
ENST00000371694.7:c.500T>A | ENSP00000360759.3:p.Ile167Asn | |
ENST00000371696.6:c.596T>A | ENSP00000360761.2:p.Ile199Asn | |
ENST00000472820.1:n.524T>A | ||
ENST00000538402.1:c.596T>A | ENSP00000438919.1:p.Ile199Asn | |
NM_001012727.1:c.500T>A | NP_001012745.1:p.Ile167Asn | |
NM_006412.3:c.596T>A | NP_006403.2:p.Ile199Asn | |
NM_006412.4:c.596T>A MANE Select | NP_006403.2:p.Ile199Asn | |
NM_001012727.2:c.500T>A | NP_001012745.1:p.Ile167Asn |