HGVS | Genome Assembly |
---|---|
NC_000009.12:g.133257357C>A , CM000671.2:g.133257357C>A | GRCh38 |
NC_000009.11:g.136132744C>A , CM000671.1:g.136132744C>A | GRCh37 |
NC_000009.10:g.135122565C>A | NCBI36 |
NG_006669.1:g.20311G>T | |
NG_006669.2:g.22859G>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000453660.4:n.403+52G>T | ||
ENST00000647353.1:n.54-6205G>T | ||
ENST00000651471.1:n.329+685G>T | ||
ENST00000679909.1:c.28+17805G>T | ENSP00000506089.1:n.28+17805G>T | |
ENST00000453660.3:n.385+52G>T | ||
ENST00000538324.2:c.371+52G>T | ENSP00000483018.1:n.371+52G>T | |
ENST00000611156.4:c.371+52G>T | ENSP00000483265.1:n.371+52G>T | |
NM_020469.2:c.374+52G>T | NP_065202.2:n.374+52G>T | |
NM_020469.3:c.374+52G>T | NP_065202.2:n.374+52G>T |