HGVS | Genome Assembly |
---|---|
NC_000009.12:g.133257320A>T , CM000671.2:g.133257320A>T | GRCh38 |
NC_000009.11:g.136132707A>T , CM000671.1:g.136132707A>T | GRCh37 |
NC_000009.10:g.135122528A>T | NCBI36 |
NG_006669.1:g.20348T>A | |
NG_006669.2:g.22896T>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000453660.4:n.403+89T>A | ||
ENST00000647353.1:n.54-6168T>A | ||
ENST00000651471.1:n.329+722T>A | ||
ENST00000679909.1:c.28+17842T>A | ENSP00000506089.1:n.28+17842T>A | |
ENST00000453660.3:n.385+89T>A | ||
ENST00000538324.2:c.371+89T>A | ENSP00000483018.1:n.371+89T>A | |
ENST00000611156.4:c.371+89T>A | ENSP00000483265.1:n.371+89T>A | |
NM_020469.2:c.374+89T>A | NP_065202.2:n.374+89T>A | |
NM_020469.3:c.374+89T>A | NP_065202.2:n.374+89T>A |