Linked Data
ClinVar Variation Id:
366734
dbSNP Id:
rs145092954
ExAC:
9:35076548 C / T
gnomAD v2:
9-35076548-C-T
gnomAD v3:
9-35076551-C-T
gnomAD v4:
9-35076551-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.35076551C>T , CM000671.2:g.35076551C>T | GRCh38 |
| NC_000009.11:g.35076548C>T , CM000671.1:g.35076548C>T | GRCh37 |
| NC_000009.10:g.35066548C>T | NCBI36 |
| NG_007312.1:g.8466G>A , LRG_499:g.8466G>A | |
| NG_007887.1:g.1192G>A , LRG_657:g.1192G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000448890.2:c.957G>A | ENSP00000409607.2:p.Pro319= | |
| ENST00000461149.2:n.2174G>A | ||
| ENST00000696700.1:n.2209G>A | ||
| ENST00000696701.1:n.1061G>A | ||
| ENST00000696702.1:c.*433G>A | ENSP00000512821.1:n.*433G>A | |
| ENST00000696703.1:c.*433G>A | ENSP00000512822.1:n.*433G>A | |
| ENST00000696706.1:n.1020G>A | ||
| ENST00000696707.1:n.1174G>A | ||
| ENST00000696708.1:c.*302G>A | ENSP00000512825.1:n.*302G>A | |
| ENST00000696709.1:n.1359G>A | ||
| ENST00000696710.1:c.957G>A | ENSP00000512826.1:p.Pro319= | |
| ENST00000696711.1:n.2406G>A | ||
| ENST00000696712.1:n.1073G>A | ||
| ENST00000696713.1:c.957G>A | ENSP00000512827.1:p.Pro319= | |
| ENST00000696714.1:n.1433G>A | ||
| ENST00000696715.1:c.957G>A | ENSP00000512828.1:p.Pro319= | |
| ENST00000378643.8:c.957G>A MANE Select | ENSP00000367910.4:p.Pro319= | |
| ENST00000378643.7:c.957G>A | ENSP00000367910.3:p.Pro319= | |
| ENST00000425676.5:c.*433G>A | ENSP00000412793.1:n.*433G>A | |
| ENST00000474894.1:n.162G>A | ||
| ENST00000476212.1:n.15G>A | ||
| NM_004629.1:c.957G>A , LRG_499t1:c.957G>A | NP_004620.1:p.Pro319= | |
| NM_004629.2:c.957G>A MANE Select | NP_004620.1:p.Pro319= |