HGVS | Genome Assembly |
---|---|
NC_000009.12:g.133255722T>G , CM000671.2:g.133255722T>G | GRCh38 |
NC_000009.11:g.136131109T>G , CM000671.1:g.136131109T>G | GRCh37 |
NC_000009.10:g.135120930T>G | NCBI36 |
NG_006669.1:g.21946A>C | |
NG_006669.2:g.24494A>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000453660.4:n.1038A>C | ||
ENST00000647353.1:n.54-4570A>C | ||
ENST00000679909.1:c.28+19440A>C | ENSP00000506089.1:n.28+19440A>C | |
ENST00000453660.3:n.1020A>C | ||
ENST00000538324.2:c.1006A>C | ENSP00000483018.1:p.Arg336= | |
ENST00000611156.4:c.1006A>C | ENSP00000483265.1:p.Arg336= | |
NM_020469.2:c.1009A>C | NP_065202.2:p.Arg337= | |
NM_020469.3:c.1009A>C | NP_065202.2:p.Arg337= |