HGVS | Genome Assembly |
---|---|
NC_000009.12:g.133255662C>G , CM000671.2:g.133255662C>G | GRCh38 |
NC_000009.11:g.136131049C>G , CM000671.1:g.136131049C>G | GRCh37 |
NC_000009.10:g.135120870C>G | NCBI36 |
NG_006669.1:g.22006G>C | |
NG_006669.2:g.24554G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000453660.4:n.1098G>C | ||
ENST00000647353.1:n.54-4510G>C | ||
ENST00000679909.1:c.28+19500G>C | ENSP00000506089.1:n.28+19500G>C | |
ENST00000453660.3:n.1080G>C | ||
ENST00000538324.2:c.1062G>C | ENSP00000483018.1:p.Arg354= | |
ENST00000611156.4:c.*4G>C | ENSP00000483265.1:n.*4G>C | |
NM_020469.2:c.*4G>C | NP_065202.2:n.*4G>C | |
NM_020469.3:c.*4G>C | NP_065202.2:n.*4G>C |