HGVS | Genome Assembly |
---|---|
NC_000009.12:g.133257292C>T , CM000671.2:g.133257292C>T | GRCh38 |
NC_000009.11:g.136132679C>T , CM000671.1:g.136132679C>T | GRCh37 |
NC_000009.10:g.135122500C>T | NCBI36 |
NG_006669.1:g.20376G>A | |
NG_006669.2:g.22924G>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000453660.4:n.403+117G>A | ||
ENST00000647353.1:n.54-6140G>A | ||
ENST00000651471.1:n.329+750G>A | ||
ENST00000679909.1:c.28+17870G>A | ENSP00000506089.1:n.28+17870G>A | |
ENST00000453660.3:n.385+117G>A | ||
ENST00000538324.2:c.371+117G>A | ENSP00000483018.1:n.371+117G>A | |
ENST00000611156.4:c.371+117G>A | ENSP00000483265.1:n.371+117G>A | |
NM_020469.2:c.374+117G>A | NP_065202.2:n.374+117G>A | |
NM_020469.3:c.374+117G>A | NP_065202.2:n.374+117G>A |