HGVS | Genome Assembly |
---|---|
NC_000009.12:g.133257435A>T , CM000671.2:g.133257435A>T | GRCh38 |
NC_000009.11:g.136132822A>T , CM000671.1:g.136132822A>T | GRCh37 |
NC_000009.10:g.135122643A>T | NCBI36 |
NG_006669.1:g.20233T>A | |
NG_006669.2:g.22781T>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000453660.4:n.377T>A | ||
ENST00000647353.1:n.54-6283T>A | ||
ENST00000651471.1:n.329+607T>A | ||
ENST00000679909.1:c.28+17727T>A | ENSP00000506089.1:n.28+17727T>A | |
ENST00000453660.3:n.359T>A | ||
ENST00000538324.2:c.345T>A | ENSP00000483018.1:p.Ile115= | |
ENST00000611156.4:c.345T>A | ENSP00000483265.1:p.Ile115= | |
NM_020469.2:c.348T>A | NP_065202.2:p.Ile116= | |
NM_020469.3:c.348T>A | NP_065202.2:p.Ile116= |