Linked Data
ClinVar Variation Id:
36707
dbSNP Id:
rs193922657
gnomAD v3:
12-112488429-C-G
gnomAD v4:
12-112488429-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.112488429C>G , CM000674.2:g.112488429C>G | GRCh38 |
| NC_000012.11:g.112926233C>G , CM000674.1:g.112926233C>G | GRCh37 |
| NC_000012.10:g.111410616C>G | NCBI36 |
| NG_007459.1:g.74698C>G , LRG_614:g.74698C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000639857.2:c.1380-14C>G | ENSP00000491593.2:n.1380-14C>G | |
| ENST00000685487.1:c.1380-14C>G | ENSP00000508503.1:n.1380-14C>G | |
| ENST00000687624.1:n.31C>G | ||
| ENST00000687906.1:c.1266-14C>G | ENSP00000509536.1:n.1266-14C>G | |
| ENST00000688597.1:c.1224+6224C>G | ENSP00000510628.1:n.1224+6224C>G | |
| ENST00000688701.1:n.610C>G | ||
| ENST00000690210.1:c.1380-14C>G | ENSP00000509272.1:n.1380-14C>G | |
| ENST00000690472.1:n.589-14C>G | ||
| ENST00000692624.1:c.1380-595C>G | ENSP00000508953.1:n.1380-595C>G | |
| ENST00000351677.7:c.1380-14C>G MANE Select | ENSP00000340944.3:n.1380-14C>G | |
| ENST00000351677.6:c.1380-14C>G | ENSP00000340944.2:n.1380-14C>G | |
| ENST00000635625.1:c.1392-14C>G | ENSP00000489597.1:n.1392-14C>G | |
| ENST00000635652.1:c.393-14C>G | ENSP00000489541.1:n.393-14C>G | |
| NM_002834.3:c.1380-14C>G , LRG_614t1:c.1380-14C>G | NP_002825.3:n.1380-14C>G | |
| XM_006719526.1:c.1392-14C>G | XP_006719589.1:n.1392-14C>G | |
| XM_006719527.1:c.1278-14C>G | XP_006719590.1:n.1278-14C>G | |
| XM_011538613.1:c.1389-14C>G | XP_011536915.1:n.1389-14C>G | |
| NM_001330437.1:c.1392-14C>G | NP_001317366.1:n.1392-14C>G | |
| NM_002834.4:c.1380-14C>G | NP_002825.3:n.1380-14C>G | |
| XM_011538613.2:c.1389-14C>G | XP_011536915.1:n.1389-14C>G | |
| XM_017019722.1:c.1377-14C>G | XP_016875211.1:n.1377-14C>G | |
| NM_001330437.2:c.1392-14C>G | NP_001317366.1:n.1392-14C>G | |
| NM_001374625.1:c.1377-14C>G | NP_001361554.1:n.1377-14C>G | |
| NM_002834.5:c.1380-14C>G MANE Select | NP_002825.3:n.1380-14C>G |