Linked Data
ClinVar Variation Id:
445394
dbSNP Id:
rs769547477
ExAC:
9:35076027 T / C
gnomAD v2:
9-35076027-T-C
gnomAD v4:
9-35076030-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.35076030T>C , CM000671.2:g.35076030T>C | GRCh38 |
| NC_000009.11:g.35076027T>C , CM000671.1:g.35076027T>C | GRCh37 |
| NC_000009.10:g.35066027T>C | NCBI36 |
| NG_007312.1:g.8987A>G , LRG_499:g.8987A>G | |
| NG_007887.1:g.1713A>G , LRG_657:g.1713A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000448890.2:c.1077-2A>G | ENSP00000409607.2:n.1077-2A>G | |
| ENST00000461149.2:n.2294-2A>G | ||
| ENST00000696700.1:n.2329-2A>G | ||
| ENST00000696701.1:n.1181-2A>G | ||
| ENST00000696702.1:c.*553-2A>G | ENSP00000512821.1:n.*553-2A>G | |
| ENST00000696703.1:c.*553-301A>G | ENSP00000512822.1:n.*553-301A>G | |
| ENST00000696706.1:n.1140-2A>G | ||
| ENST00000696707.1:n.1294-2A>G | ||
| ENST00000696708.1:c.*422-2A>G | ENSP00000512825.1:n.*422-2A>G | |
| ENST00000696709.1:n.1461-2A>G | ||
| ENST00000696710.1:c.1077-2A>G | ENSP00000512826.1:n.1077-2A>G | |
| ENST00000696711.1:n.2927A>G | ||
| ENST00000696712.1:n.1193-2A>G | ||
| ENST00000696713.1:c.1077-2A>G | ENSP00000512827.1:n.1077-2A>G | |
| ENST00000696714.1:n.1553-301A>G | ||
| ENST00000696715.1:c.1077-2A>G | ENSP00000512828.1:n.1077-2A>G | |
| ENST00000378643.8:c.1077-2A>G MANE Select | ENSP00000367910.4:n.1077-2A>G | |
| ENST00000378643.7:c.1077-2A>G | ENSP00000367910.3:n.1077-2A>G | |
| ENST00000425676.5:c.*553-2A>G | ENSP00000412793.1:n.*553-2A>G | |
| ENST00000476212.1:n.44+492A>G | ||
| NM_004629.1:c.1077-2A>G , LRG_499t1:c.1077-2A>G | NP_004620.1:n.1077-2A>G | |
| NM_004629.2:c.1077-2A>G MANE Select | NP_004620.1:n.1077-2A>G |