Linked Data
dbSNP Id:
rs11851526
gnomAD v2:
14-69405448-T-C
gnomAD v3:
14-68938731-T-C
gnomAD v4:
14-68938731-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.68938731T>C , CM000676.2:g.68938731T>C | GRCh38 |
| NC_000014.8:g.69405448T>C , CM000676.1:g.69405448T>C | GRCh37 |
| NC_000014.7:g.68475201T>C | NCBI36 |
| NG_029480.1:g.45636A>G , LRG_886:g.45636A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000554508.6:c.-90-13059A>G | ENSP00000507578.1:n.-90-13059A>G | |
| ENST00000682130.1:n.394-13059A>G | ||
| ENST00000682291.1:c.106-13059A>G | ENSP00000507093.1:n.106-13059A>G | |
| ENST00000682298.1:n.394-13059A>G | ||
| ENST00000682331.1:c.106-13059A>G | ENSP00000508329.1:n.106-13059A>G | |
| ENST00000682378.1:n.394-13059A>G | ||
| ENST00000682381.1:n.394-13059A>G | ||
| ENST00000682559.1:c.106-13059A>G | ENSP00000507271.1:n.106-13059A>G | |
| ENST00000682602.1:n.200-13059A>G | ||
| ENST00000683069.1:n.394-13059A>G | ||
| ENST00000683198.1:c.106-13059A>G | ENSP00000507889.1:n.106-13059A>G | |
| ENST00000683225.1:c.-90-13059A>G | ENSP00000506977.1:n.-90-13059A>G | |
| ENST00000683261.1:n.394-13059A>G | ||
| ENST00000683267.1:c.106-13059A>G | ENSP00000508356.1:n.106-13059A>G | |
| ENST00000683342.1:c.106-13059A>G | ENSP00000508301.1:n.106-13059A>G | |
| ENST00000683780.1:n.394-13059A>G | ||
| ENST00000684146.1:n.394-13059A>G | ||
| ENST00000684340.1:n.394-13059A>G | ||
| ENST00000684598.1:c.106-13059A>G | ENSP00000507785.1:n.106-13059A>G | |
| ENST00000684638.1:c.106-13059A>G | ENSP00000507609.1:n.106-13059A>G | |
| ENST00000684639.1:c.106-13059A>G | ENSP00000507653.1:n.106-13059A>G | |
| ENST00000684713.1:c.106-13059A>G | ENSP00000507155.1:n.106-13059A>G | |
| ENST00000394419.9:c.106-13059A>G MANE Select | ENSP00000377941.4:n.106-13059A>G | |
| ENST00000679147.1:c.106-13059A>G | ENSP00000504355.1:n.106-13059A>G | |
| ENST00000193403.10:c.106-13059A>G | ENSP00000193403.6:n.106-13059A>G | |
| ENST00000376839.7:c.-90-13059A>G | ENSP00000366035.3:n.-90-13059A>G | |
| ENST00000394419.8:c.106-13059A>G | ENSP00000377941.4:n.106-13059A>G | |
| ENST00000438964.6:c.106-13059A>G | ENSP00000414272.2:n.106-13059A>G | |
| ENST00000538545.6:c.106-13059A>G | ENSP00000439828.2:n.106-13059A>G | |
| ENST00000553370.5:c.-90-13059A>G | ENSP00000450925.1:n.-90-13059A>G | |
| ENST00000553659.1:c.103-13059A>G | ENSP00000451086.1:n.103-13059A>G | |
| ENST00000553779.5:c.-91+8633A>G | ENSP00000450618.1:n.-91+8633A>G | |
| ENST00000555616.5:c.-90-13059A>G | ENSP00000450903.1:n.-90-13059A>G | |
| ENST00000556433.5:c.43-13059A>G | ENSP00000450764.1:n.43-13059A>G | |
| ENST00000556571.1:c.37-13059A>G | ENSP00000452423.1:n.37-13059A>G | |
| NM_001102.3:c.106-13059A>G | NP_001093.1:n.106-13059A>G | |
| NM_001130004.1:c.106-13059A>G , LRG_886t1:c.106-13059A>G | NP_001123476.1:n.106-13059A>G | |
| NM_001130005.1:c.106-13059A>G | NP_001123477.1:n.106-13059A>G | |
| XM_011537269.1:c.106-13059A>G | XP_011535571.1:n.106-13059A>G | |
| XM_011537270.1:c.43-13059A>G | XP_011535572.1:n.43-13059A>G | |
| XM_011537271.1:c.43-13059A>G | XP_011535573.1:n.43-13059A>G | |
| XM_017021722.2:c.106-13059A>G | XP_016877211.1:n.106-13059A>G | |
| XM_017021723.2:c.106-13059A>G | XP_016877212.1:n.106-13059A>G | |
| XM_017021725.1:c.43-13059A>G | XP_016877214.1:n.43-13059A>G | |
| XM_017021726.2:c.43-13059A>G | XP_016877215.1:n.43-13059A>G | |
| XM_017021727.2:c.106-13059A>G | XP_016877216.1:n.106-13059A>G | |
| XM_017021728.2:c.43-13059A>G | XP_016877217.1:n.43-13059A>G | |
| NM_001102.4:c.106-13059A>G | NP_001093.1:n.106-13059A>G | |
| NM_001130005.2:c.106-13059A>G | NP_001123477.1:n.106-13059A>G | |
| NM_001130004.2:c.106-13059A>G MANE Select | NP_001123476.1:n.106-13059A>G |