HGVS | Genome Assembly |
---|---|
NC_000009.12:g.101424994T>A , CM000671.2:g.101424994T>A | GRCh38 |
NC_000009.11:g.104187276T>A , CM000671.1:g.104187276T>A | GRCh37 |
NC_000009.10:g.103227097T>A | NCBI36 |
NG_012387.1:g.15787A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000647789.2:c.848A>T MANE Select | ENSP00000497767.1:p.Asn283Ile | |
ENST00000648064.1:c.848A>T | ENSP00000497990.1:p.Asn283Ile | |
ENST00000648758.1:c.848A>T | ENSP00000497731.1:p.Asn283Ile | |
ENST00000649902.1:c.848A>T | ENSP00000497216.1:p.Asn283Ile | |
ENST00000374855.8:c.848A>T | ENSP00000363988.4:p.Asn283Ile | |
ENST00000616752.1:c.848A>T | ENSP00000481363.1:p.Asn283Ile | |
NM_000035.3:c.848A>T | NP_000026.2:p.Asn283Ile | |
NM_000035.4:c.848A>T MANE Select | NP_000026.2:p.Asn283Ile |