Linked Data
ClinVar Variation Id:
1229935
ClinVar RCV Id:
RCV001612283
dbSNP Id:
rs11706052
ExAC:
3:49064110 A / G
gnomAD v2:
3-49064110-A-G
gnomAD v3:
3-49026677-A-G
gnomAD v4:
3-49026677-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.49026677A>G , CM000665.2:g.49026677A>G | GRCh38 |
| NC_000003.11:g.49064110A>G , CM000665.1:g.49064110A>G | GRCh37 |
| NC_000003.10:g.49039114A>G | NCBI36 |
| NG_012091.1:g.7766T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000703936.1:c.2859+10T>C | ENSP00000515567.1:n.2859+10T>C | |
| ENST00000703937.1:c.*1920+10T>C | ENSP00000515568.1:n.*1920+10T>C | |
| ENST00000326739.9:c.819+10T>C MANE Select | ENSP00000321584.4:n.819+10T>C | |
| ENST00000429182.6:c.819+10T>C | ENSP00000393525.2:n.819+10T>C | |
| ENST00000442157.2:c.744+10T>C | ENSP00000403502.2:n.744+10T>C | |
| ENST00000462980.2:n.1334+10T>C | ||
| ENST00000472328.2:n.885+10T>C | ||
| ENST00000491610.2:n.779+10T>C | ||
| ENST00000676607.1:n.1115+10T>C | ||
| ENST00000676627.1:n.1549+10T>C | ||
| ENST00000676708.1:n.2099+10T>C | ||
| ENST00000676864.1:n.1968+10T>C | ||
| ENST00000677010.1:c.855+10T>C | ENSP00000503089.1:n.855+10T>C | |
| ENST00000677108.1:n.2735T>C | ||
| ENST00000677168.1:n.1291+10T>C | ||
| ENST00000677185.1:n.1382+10T>C | ||
| ENST00000677205.1:n.1603+10T>C | ||
| ENST00000677344.1:n.2093+10T>C | ||
| ENST00000677480.1:c.*496+10T>C | ENSP00000504378.1:n.*496+10T>C | |
| ENST00000677519.1:n.1529+10T>C | ||
| ENST00000677593.1:n.1375+10T>C | ||
| ENST00000677740.1:n.2324+10T>C | ||
| ENST00000677991.1:n.1992+10T>C | ||
| ENST00000678001.1:n.1312+10T>C | ||
| ENST00000678085.1:n.1385T>C | ||
| ENST00000678177.1:n.2678T>C | ||
| ENST00000678603.1:n.1897+10T>C | ||
| ENST00000678724.1:c.744+10T>C | ENSP00000503874.1:n.744+10T>C | |
| ENST00000678920.1:n.977+10T>C | ||
| ENST00000679019.1:n.1599T>C | ||
| ENST00000679117.1:c.*634+10T>C | ENSP00000503240.1:n.*634+10T>C | |
| ENST00000679339.1:n.1660+10T>C | ||
| ENST00000326739.8:c.819+10T>C | ENSP00000321584.4:n.819+10T>C | |
| ENST00000429182.5:c.613+10T>C | ||
| ENST00000442157.1:c.744+10T>C | ENSP00000403502.1:n.744+10T>C | |
| ENST00000462980.1:n.721+10T>C | ||
| ENST00000491610.1:n.779+10T>C | ||
| NM_000884.2:c.819+10T>C | NP_000875.2:n.819+10T>C | |
| XM_006713128.2:c.1029+10T>C | XP_006713191.1:n.1029+10T>C | |
| XM_006713128.3:c.1029+10T>C | XP_006713191.1:n.1029+10T>C | |
| XM_017006349.1:c.954+10T>C | XP_016861838.1:n.954+10T>C | |
| XM_017006350.1:c.954+10T>C | XP_016861839.1:n.954+10T>C | |
| NM_000884.3:c.819+10T>C MANE Select | NP_000875.2:n.819+10T>C |