Linked Data
ClinVar Variation Id:
2118241
ClinVar RCV Id:
RCV003039496
dbSNP Id:
rs752398358
ExAC:
1:115216522 T / C
gnomAD v2:
1-115216522-T-C
gnomAD v3:
1-114673901-T-C
gnomAD v4:
1-114673901-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.114673901T>C , CM000663.2:g.114673901T>C | GRCh38 |
| NC_000001.10:g.115216522T>C , CM000663.1:g.115216522T>C | GRCh37 |
| NC_000001.9:g.115018045T>C | NCBI36 |
| NG_008012.1:g.26655A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369538.4:c.1962+8A>G | ENSP00000358551.4:n.1962+8A>G | |
| ENST00000520113.7:c.1974+8A>G MANE Select | ENSP00000430075.3:n.1974+8A>G | |
| ENST00000637080.1:c.1757+8A>G | ENSP00000489753.1:n.1757+8A>G | |
| ENST00000638214.1:n.1087+8A>G | ||
| ENST00000639077.1:n.1496+8A>G | ||
| ENST00000639274.1:n.604+8A>G | ||
| ENST00000369538.3:c.2061+8A>G | ENSP00000358551.3:n.2061+8A>G | |
| ENST00000520113.6:c.2073+8A>G | ENSP00000430075.2:n.2073+8A>G | |
| NM_000036.2:c.2073+8A>G | NP_000027.2:n.2073+8A>G | |
| NM_001172626.1:c.2061+8A>G | NP_001166097.1:n.2061+8A>G | |
| NM_000036.3:c.1974+8A>G MANE Select | NP_000027.3:n.1974+8A>G | |
| NM_001172626.2:c.1962+8A>G | NP_001166097.2:n.1962+8A>G |