HGVS | Genome Assembly |
---|---|
NC_000009.12:g.133257541T>G , CM000671.2:g.133257541T>G | GRCh38 |
NC_000009.11:g.136132928T>G , CM000671.1:g.136132928T>G | GRCh37 |
NC_000009.10:g.135122749T>G | NCBI36 |
NG_006669.1:g.20126A>C | |
NG_006669.2:g.22674A>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000453660.4:n.271A>C | ||
ENST00000647353.1:n.54-6389A>C | ||
ENST00000651471.1:n.329+501A>C | ||
ENST00000679909.1:c.28+17621A>C | ENSP00000506089.1:n.28+17621A>C | |
ENST00000453660.3:n.253A>C | ||
ENST00000538324.2:c.241A>C | ENSP00000483018.1:p.Arg81= | |
ENST00000611156.4:c.241A>C | ENSP00000483265.1:p.Arg81= | |
NM_020469.2:c.241A>C | NP_065202.2:p.Arg81= | |
NM_020469.3:c.241A>C | NP_065202.2:p.Arg81= |