Linked Data
ClinVar Variation Id:
44234
ClinVar RCV Id:
RCV000037213
RCV000252961
RCV000268709
RCV000308725
RCV000363435
RCV001659955
RCV001515051
dbSNP Id:
rs11603779
ExAC:
11:111781047 A / C
gnomAD v2:
11-111781047-A-C
gnomAD v3:
11-111910323-A-C
gnomAD v4:
11-111910323-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.111910323A>C , CM000673.2:g.111910323A>C | GRCh38 |
| NC_000011.9:g.111781047A>C , CM000673.1:g.111781047A>C | GRCh37 |
| NC_000011.8:g.111286257A>C | NCBI36 |
| NG_009824.2:g.18400T>G | |
| NG_033080.1:g.2588A>C | |
| NG_009824.3:g.18400T>G | |
| NG_033080.2:g.2588A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000526167.5:c.123+4T>G | ENSP00000434793.1:n.123+4T>G | |
| ENST00000526180.6:c.324+4T>G | ENSP00000436051.1:n.324+4T>G | |
| ENST00000527899.6:c.324+4T>G | ENSP00000436089.2:n.324+4T>G | |
| ENST00000528961.6:c.123+4T>G | ENSP00000435960.1:n.123+4T>G | |
| ENST00000533280.6:c.123+4T>G | ENSP00000435046.1:n.123+4T>G | |
| ENST00000533475.6:c.324+4T>G | ENSP00000433560.1:n.324+4T>G | |
| ENST00000533879.2:c.324+4T>G | ENSP00000435931.2:n.324+4T>G | |
| ENST00000533971.2:c.328T>G | ENSP00000434269.1:p.Cys110Gly | |
| ENST00000616970.5:c.324+4T>G | ENSP00000483554.1:n.324+4T>G | |
| ENST00000650687.2:c.324+4T>G MANE Select | ENSP00000499082.1:n.324+4T>G | |
| ENST00000651164.1:c.324+4T>G | ENSP00000498735.1:n.324+4T>G | |
| ENST00000651650.1:c.123+4T>G | ENSP00000498749.1:n.123+4T>G | |
| ENST00000652223.1:n.1714T>G | ||
| ENST00000652606.1:n.1642+4T>G | ||
| ENST00000227251.7:c.324+4T>G | ENSP00000227251.3:n.324+4T>G | |
| ENST00000525823.1:c.123+4T>G | ENSP00000435411.1:n.123+4T>G | |
| ENST00000526167.4:c.123+4T>G | ENSP00000434793.1:n.123+4T>G | |
| ENST00000526180.5:c.324+4T>G | ENSP00000436051.1:n.324+4T>G | |
| ENST00000527899.5:c.324+4T>G | ENSP00000436089.1:n.324+4T>G | |
| ENST00000527950.5:c.324+4T>G | ENSP00000437149.1:n.324+4T>G | |
| ENST00000528961.5:c.123+4T>G | ENSP00000435960.1:n.123+4T>G | |
| ENST00000529647.5:c.324+4T>G | ENSP00000431754.1:n.324+4T>G | |
| ENST00000531198.5:c.324+4T>G | ENSP00000434247.1:n.324+4T>G | |
| ENST00000533280.5:c.123+4T>G | ENSP00000435046.1:n.123+4T>G | |
| ENST00000533475.5:c.324+4T>G | ENSP00000433560.1:n.324+4T>G | |
| ENST00000533971.1:c.328T>G | ENSP00000434269.1:p.Cys110Gly | |
| ENST00000616970.4:c.324+4T>G | ENSP00000483554.1:n.324+4T>G | |
| NM_001289807.1:c.324+4T>G | NP_001276736.1:n.324+4T>G | |
| NM_001289808.1:c.324+4T>G | NP_001276737.1:n.324+4T>G | |
| NM_001885.2:c.324+4T>G | NP_001876.1:n.324+4T>G | |
| XM_011542608.1:c.324+4T>G | XP_011540910.1:n.324+4T>G | |
| XM_011542609.1:c.123+4T>G | XP_011540911.1:n.123+4T>G | |
| NM_001330379.1:c.123+4T>G | NP_001317308.1:n.123+4T>G | |
| NM_001289808.2:c.324+4T>G MANE Select | NP_001276737.1:n.324+4T>G | |
| NM_001368245.1:c.324+4T>G | NP_001355174.1:n.324+4T>G | |
| NM_001368246.1:c.123+4T>G | NP_001355175.1:n.123+4T>G | |
| NM_001885.3:c.324+4T>G | NP_001876.1:n.324+4T>G |