HGVS | Genome Assembly |
---|---|
NC_000009.12:g.133257431A>G , CM000671.2:g.133257431A>G | GRCh38 |
NC_000009.11:g.136132818A>G , CM000671.1:g.136132818A>G | GRCh37 |
NC_000009.10:g.135122639A>G | NCBI36 |
NG_006669.1:g.20237T>C | |
NG_006669.2:g.22785T>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000453660.4:n.381T>C | ||
ENST00000647353.1:n.54-6279T>C | ||
ENST00000651471.1:n.329+611T>C | ||
ENST00000679909.1:c.28+17731T>C | ENSP00000506089.1:n.28+17731T>C | |
ENST00000453660.3:n.363T>C | ||
ENST00000538324.2:c.349T>C | ENSP00000483018.1:p.Leu117= | |
ENST00000611156.4:c.349T>C | ENSP00000483265.1:p.Leu117= | |
NM_020469.2:c.352T>C | NP_065202.2:p.Leu118= | |
NM_020469.3:c.352T>C | NP_065202.2:p.Leu118= |