HGVS | Genome Assembly |
---|---|
NC_000009.12:g.98577945T>A , CM000671.2:g.98577945T>A | GRCh38 |
NC_000009.11:g.101340227T>A , CM000671.1:g.101340227T>A | GRCh37 |
NC_000009.10:g.100380048T>A | NCBI36 |
NG_016426.1:g.136253A>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000259455.4:c.449A>T MANE Select | ENSP00000259455.2:p.Asn150Ile | |
ENST00000637410.1:n.227A>T | ||
ENST00000637717.1:c.65A>T | ENSP00000490789.1:p.Asn22Ile | |
ENST00000259455.3:c.449A>T | ENSP00000259455.2:p.Asn150Ile | |
ENST00000634227.1:n.223A>T | ||
NM_005458.7:c.449A>T | NP_005449.5:p.Asn150Ile | |
NM_005458.8:c.449A>T MANE Select | NP_005449.5:p.Asn150Ile |