Linked Data
ClinVar Variation Id:
1204636
ClinVar RCV Id:
RCV001571040
dbSNP Id:
rs56299889
gnomAD v2:
5-70247672-A-G
gnomAD v3:
5-70951845-A-G
gnomAD v4:
5-70951845-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.70951845A>G , CM000667.2:g.70951845A>G | GRCh38 |
| NC_000005.9:g.70247672A>G , CM000667.1:g.70247672A>G | GRCh37 |
| NC_000005.8:g.70283428A>G | NCBI36 |
| NG_008691.1:g.31905A>G , LRG_676:g.31905A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000380707.9:c.835-96A>G MANE Select | ENSP00000370083.4:n.835-96A>G | |
| ENST00000351205.8:c.835-96A>G | ENSP00000305857.5:n.835-96A>G | |
| ENST00000380707.8:c.835-96A>G | ENSP00000370083.4:n.835-96A>G | |
| ENST00000503079.6:c.739-96A>G | ENSP00000428128.1:n.739-96A>G | |
| ENST00000506163.5:c.835-594A>G | ENSP00000424926.1:n.835-594A>G | |
| ENST00000506239.6:c.*59-594A>G | ENSP00000422679.2:n.*59-594A>G | |
| ENST00000510679.1:n.89-96A>G | ||
| ENST00000514951.5:c.634-96A>G | ENSP00000423298.1:n.634-96A>G | |
| NM_000344.3:c.835-96A>G , LRG_676t1:c.835-96A>G | NP_000335.1:n.835-96A>G | |
| NM_001297715.1:c.835-594A>G | NP_001284644.1:n.835-594A>G | |
| NM_022874.2:c.739-96A>G | NP_075012.1:n.739-96A>G | |
| XM_011543597.1:c.634-96A>G | XP_011541899.1:n.634-96A>G | |
| XM_011543598.1:c.538-96A>G | XP_011541900.1:n.538-96A>G | |
| XM_011543598.3:c.538-96A>G | XP_011541900.1:n.538-96A>G | |
| XM_017009786.1:c.739-594A>G | XP_016865275.1:n.739-594A>G | |
| NM_000344.4:c.835-96A>G MANE Select | NP_000335.1:n.835-96A>G |