Linked Data
ClinVar Variation Id:
1209734
dbSNP Id:
rs2072633
gnomAD v2:
6-31919578-A-G
gnomAD v3:
6-31951801-A-G
gnomAD v4:
6-31951801-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31951801A>G , CM000668.2:g.31951801A>G | GRCh38 |
| NC_000006.11:g.31919578A>G , CM000668.1:g.31919578A>G | GRCh37 |
| NC_000006.10:g.32027557A>G | NCBI36 |
| NG_008191.1:g.10858A>G , LRG_136:g.10858A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000452035.7:n.2574-74A>G | ||
| ENST00000483004.2:c.1924-74A>G | ENSP00000419887.2:n.1924-74A>G | |
| ENST00000698628.1:c.1909-74A>G | ENSP00000513848.1:n.1909-74A>G | |
| ENST00000698629.1:n.2359-74A>G | ||
| ENST00000698630.1:n.2856-74A>G | ||
| ENST00000698631.1:n.2857-74A>G | ||
| ENST00000698632.1:n.3945-74A>G | ||
| ENST00000698633.1:n.3835-74A>G | ||
| ENST00000425368.7:c.2140-74A>G MANE Select | ENSP00000416561.2:n.2140-74A>G | |
| ENST00000425368.6:c.2140-74A>G | ENSP00000416561.2:n.2140-74A>G | |
| ENST00000456570.5:c.3646-74A>G | ENSP00000410815.1:n.3646-74A>G | |
| ENST00000477310.1:c.3193-74A>G | ENSP00000418996.1:n.3193-74A>G | |
| ENST00000482312.1:n.555-74A>G | ||
| ENST00000483004.1:c.762-74A>G | ||
| ENST00000498317.1:c.306A>G | ||
| NM_001710.5:c.2140-74A>G , LRG_136t1:c.2140-74A>G | NP_001701.2:n.2140-74A>G | |
| NM_001710.6:c.2140-74A>G MANE Select | NP_001701.2:n.2140-74A>G |