Linked Data
ClinVar Variation Id:
2446682
ClinVar RCV Id:
RCV003159512
dbSNP Id:
rs797045012
gnomAD v2:
6-33400460-A-C
gnomAD v3:
6-33432683-A-C
gnomAD v4:
6-33432683-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.33432683A>C , CM000668.2:g.33432683A>C | GRCh38 |
| NC_000006.11:g.33400460A>C , CM000668.1:g.33400460A>C | GRCh37 |
| NC_000006.10:g.33508438A>C | NCBI36 |
| NG_016137.1:g.17614A>C | |
| NG_016137.2:g.17614A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000682587.1:c.130-2A>C | ENSP00000507403.1:n.130-2A>C | |
| ENST00000418600.7:c.388-2A>C | ENSP00000403636.3:n.388-2A>C | |
| ENST00000449372.7:c.388-2A>C | ENSP00000416519.4:n.388-2A>C | |
| ENST00000629380.3:c.388-2A>C | ENSP00000486463.1:n.388-2A>C | |
| ENST00000638142.2:c.388-2A>C | ENSP00000490803.1:n.388-2A>C | |
| ENST00000644458.1:c.388-2A>C | ENSP00000495541.1:n.388-2A>C | |
| ENST00000645250.1:c.211-2A>C | ENSP00000494861.1:n.211-2A>C | |
| ENST00000646630.1:c.388-2A>C MANE Select | ENSP00000496007.1:n.388-2A>C | |
| ENST00000293748.9:c.343-2A>C | ENSP00000293748.6:n.343-2A>C | |
| ENST00000418600.6:c.388-2A>C | ENSP00000403636.3:n.388-2A>C | |
| ENST00000428982.4:c.211-2A>C | ENSP00000412475.2:n.211-2A>C | |
| ENST00000449372.6:c.388-2A>C | ENSP00000416519.3:n.388-2A>C | |
| ENST00000479510.2:n.583-2A>C | ||
| ENST00000628646.2:c.388-2A>C | ENSP00000486431.1:n.388-2A>C | |
| ENST00000629380.2:c.388-2A>C | ENSP00000486463.1:n.388-2A>C | |
| NM_006772.2:c.388-2A>C | NP_006763.2:n.388-2A>C | |
| NM_001130066.1:c.388-2A>C | NP_001123538.1:n.388-2A>C | |
| NM_001130066.2:c.388-2A>C | NP_001123538.1:n.388-2A>C | |
| NM_006772.3:c.388-2A>C MANE Select | NP_006763.2:n.388-2A>C |