HGVS | Genome Assembly |
---|---|
NC_000009.12:g.133256293A>G , CM000671.2:g.133256293A>G | GRCh38 |
NC_000009.11:g.136131680A>G , CM000671.1:g.136131680A>G | GRCh37 |
NC_000009.10:g.135121501A>G | NCBI36 |
NG_006669.1:g.21375T>C | |
NG_006669.2:g.23923T>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000453660.4:n.467T>C | ||
ENST00000647353.1:n.54-5141T>C | ||
ENST00000651471.1:n.393T>C | ||
ENST00000679909.1:c.28+18869T>C | ENSP00000506089.1:n.28+18869T>C | |
ENST00000453660.3:n.449T>C | ||
ENST00000538324.2:c.435T>C | ENSP00000483018.1:p.Arg145= | |
ENST00000611156.4:c.435T>C | ENSP00000483265.1:p.Arg145= | |
NM_020469.2:c.438T>C | NP_065202.2:p.Arg146= | |
NM_020469.3:c.438T>C | NP_065202.2:p.Arg146= |