Linked Data
ClinVar Variation Id:
366731
dbSNP Id:
rs138855718
ExAC:
9:35074439 C / G
gnomAD v2:
9-35074439-C-G
gnomAD v3:
9-35074442-C-G
gnomAD v4:
9-35074442-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.35074442C>G , CM000671.2:g.35074442C>G | GRCh38 |
| NC_000009.11:g.35074439C>G , CM000671.1:g.35074439C>G | GRCh37 |
| NC_000009.10:g.35064439C>G | NCBI36 |
| NG_007312.1:g.10575G>C , LRG_499:g.10575G>C | |
| NG_007887.1:g.3301G>C , LRG_657:g.3301G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000448890.2:c.1689G>C | ENSP00000409607.2:p.Arg563= | |
| ENST00000461149.2:n.3509G>C | ||
| ENST00000696700.1:n.3544G>C | ||
| ENST00000696701.1:n.1989G>C | ||
| ENST00000696702.1:c.*1140G>C | ENSP00000512821.1:n.*1140G>C | |
| ENST00000696703.1:c.*1073G>C | ENSP00000512822.1:n.*1073G>C | |
| ENST00000696706.1:n.1752G>C | ||
| ENST00000696707.1:n.1906G>C | ||
| ENST00000696708.1:c.*1034G>C | ENSP00000512825.1:n.*1034G>C | |
| ENST00000696709.1:n.2908G>C | ||
| ENST00000696710.1:c.1683G>C | ENSP00000512826.1:p.Arg561= | |
| ENST00000696711.1:n.4376G>C | ||
| ENST00000696712.1:n.2408G>C | ||
| ENST00000696713.1:c.1657G>C | ENSP00000512827.1:p.Glu553Gln | |
| ENST00000696714.1:n.2701G>C | ||
| ENST00000696715.1:c.1689G>C | ENSP00000512828.1:p.Arg563= | |
| ENST00000378643.8:c.1689G>C MANE Select | ENSP00000367910.4:p.Arg563= | |
| ENST00000378643.7:c.1689G>C | ENSP00000367910.3:p.Arg563= | |
| ENST00000425676.5:c.*1165G>C | ENSP00000412793.1:n.*1165G>C | |
| ENST00000476212.1:n.45-10G>C | ||
| NM_004629.1:c.1689G>C , LRG_499t1:c.1689G>C | NP_004620.1:p.Arg563= | |
| NM_004629.2:c.1689G>C MANE Select | NP_004620.1:p.Arg563= |