HGVS | Genome Assembly |
---|---|
NC_000009.12:g.133255741C>G , CM000671.2:g.133255741C>G | GRCh38 |
NC_000009.11:g.136131128C>G , CM000671.1:g.136131128C>G | GRCh37 |
NC_000009.10:g.135120949C>G | NCBI36 |
NG_006669.1:g.21927G>C | |
NG_006669.2:g.24475G>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000453660.4:n.1019G>C | ||
ENST00000647353.1:n.54-4589G>C | ||
ENST00000679909.1:c.28+19421G>C | ENSP00000506089.1:n.28+19421G>C | |
ENST00000453660.3:n.1001G>C | ||
ENST00000538324.2:c.987G>C | ENSP00000483018.1:p.Leu329= | |
ENST00000611156.4:c.987G>C | ENSP00000483265.1:p.Leu329= | |
NM_020469.2:c.990G>C | NP_065202.2:p.Leu330= | |
NM_020469.3:c.990G>C | NP_065202.2:p.Leu330= |