HGVS | Genome Assembly |
---|---|
NC_000002.12:g.61378382A>T , CM000664.2:g.61378382A>T | GRCh38 |
NC_000002.11:g.61605517A>T , CM000664.1:g.61605517A>T | GRCh37 |
NC_000002.10:g.61459021A>T | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000398571.7:c.1057T>A MANE Select | ENSP00000381577.2:p.Leu353Ile | |
ENST00000398571.6:c.1057T>A | ENSP00000381577.2:p.Leu353Ile | |
ENST00000453133.1:c.583T>A | ||
NM_014709.3:c.1057T>A | NP_055524.3:p.Leu353Ile | |
NM_014709.4:c.1057T>A MANE Select | NP_055524.3:p.Leu353Ile |