HGVS | Genome Assembly |
---|---|
NC_000009.12:g.133257319C>G , CM000671.2:g.133257319C>G | GRCh38 |
NC_000009.11:g.136132706C>G , CM000671.1:g.136132706C>G | GRCh37 |
NC_000009.10:g.135122527C>G | NCBI36 |
NG_006669.1:g.20349G>C | |
NG_006669.2:g.22897G>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000453660.4:n.403+90G>C | ||
ENST00000647353.1:n.54-6167G>C | ||
ENST00000651471.1:n.329+723G>C | ||
ENST00000679909.1:c.28+17843G>C | ENSP00000506089.1:n.28+17843G>C | |
ENST00000453660.3:n.385+90G>C | ||
ENST00000538324.2:c.371+90G>C | ENSP00000483018.1:n.371+90G>C | |
ENST00000611156.4:c.371+90G>C | ENSP00000483265.1:n.371+90G>C | |
NM_020469.2:c.374+90G>C | NP_065202.2:n.374+90G>C | |
NM_020469.3:c.374+90G>C | NP_065202.2:n.374+90G>C |