Linked Data
ClinVar Variation Id:
1256809
ClinVar RCV Id:
RCV001673418
dbSNP Id:
rs11082498
gnomAD v2:
18-43502728-T-C
gnomAD v3:
18-45922762-T-C
gnomAD v4:
18-45922762-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.45922762T>C , CM000680.2:g.45922762T>C | GRCh38 |
| NC_000018.9:g.43502728T>C , CM000680.1:g.43502728T>C | GRCh37 |
| NC_000018.8:g.41756726T>C | NCBI36 |
| NG_042838.1:g.49578A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000587884.2:c.2839-162A>G | ENSP00000466990.2:n.2839-162A>G | |
| ENST00000590884.6:c.2839-162A>G | ENSP00000466403.2:n.2839-162A>G | |
| ENST00000592272.6:c.2839-162A>G | ENSP00000467464.2:n.2839-162A>G | |
| ENST00000696482.1:c.2838+506A>G | ENSP00000512656.1:n.2838+506A>G | |
| ENST00000696483.1:c.2839-162A>G | ENSP00000512657.1:n.2839-162A>G | |
| ENST00000696484.1:c.2839-162A>G | ENSP00000512658.1:n.2839-162A>G | |
| ENST00000696485.1:c.2839-162A>G | ENSP00000512659.1:n.2839-162A>G | |
| ENST00000696489.1:c.2839-162A>G | ENSP00000512660.1:n.2839-162A>G | |
| ENST00000696490.1:c.2839-162A>G | ENSP00000512661.1:n.2839-162A>G | |
| ENST00000282041.11:c.2839-162A>G MANE Select | ENSP00000282041.4:n.2839-162A>G | |
| ENST00000282041.9:c.2839-162A>G | ENSP00000282041.4:n.2839-162A>G | |
| ENST00000587974.1:n.2874-162A>G | ||
| NM_020964.2:c.2839-162A>G | NP_066015.2:n.2839-162A>G | |
| XM_011526120.1:c.2839-162A>G | XP_011524422.1:n.2839-162A>G | |
| XM_011526121.1:c.2839-162A>G | XP_011524423.1:n.2839-162A>G | |
| XM_011526122.1:c.2839-162A>G | XP_011524424.1:n.2839-162A>G | |
| XM_011526123.1:c.2839-162A>G | XP_011524425.1:n.2839-162A>G | |
| XM_011526124.1:c.2839-162A>G | XP_011524426.1:n.2839-162A>G | |
| XM_011526125.1:c.2839-162A>G | XP_011524427.1:n.2839-162A>G | |
| XM_011526126.1:c.1774-162A>G | XP_011524428.1:n.1774-162A>G | |
| XM_011526127.1:c.2839-162A>G | XP_011524429.1:n.2839-162A>G | |
| XM_011526128.1:c.2839-162A>G | XP_011524430.1:n.2839-162A>G | |
| XR_935244.1:n.2939-162A>G | ||
| NM_020964.3:c.2839-162A>G MANE Select | NP_066015.2:n.2839-162A>G | |
| XM_017025889.1:c.2839-162A>G | XP_016881378.1:n.2839-162A>G | |
| XM_017025890.2:c.2839-162A>G | XP_016881379.1:n.2839-162A>G | |
| XM_017025891.1:c.2839-162A>G | XP_016881380.1:n.2839-162A>G | |
| XM_017025892.1:c.1774-162A>G | XP_016881381.1:n.1774-162A>G | |
| XM_017025893.1:c.-278+506A>G | XP_016881382.1:n.-278+506A>G | |
| XR_001753256.1:n.2921-162A>G | ||
| XR_001753257.1:n.2921-162A>G |