Linked Data
dbSNP Id:
rs2020902
ExAC:
1:15834360 A / G
gnomAD v2:
1-15834360-A-G
gnomAD v3:
1-15507865-A-G
gnomAD v4:
1-15507865-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.15507865A>G , CM000663.2:g.15507865A>G | GRCh38 |
| NC_000001.10:g.15834360A>G , CM000663.1:g.15834360A>G | GRCh37 |
| NC_000001.9:g.15706947A>G | NCBI36 |
| NG_029188.1:g.21926T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000333868.10:c.453+8T>C MANE Select | ENSP00000330237.5:n.453+8T>C | |
| ENST00000333868.9:c.453+8T>C | ENSP00000330237.5:n.453+8T>C | |
| ENST00000348549.9:c.418+10245T>C | ENSP00000255256.7:n.418+10245T>C | |
| ENST00000375890.8:c.204+8T>C | ENSP00000365051.4:n.204+8T>C | |
| ENST00000400777.7:c.445+8T>C | ||
| ENST00000440484.1:c.453+8T>C | ENSP00000411304.1:n.453+8T>C | |
| ENST00000447522.5:c.204+8T>C | ENSP00000396540.1:n.204+8T>C | |
| ENST00000474305.2:c.313+8T>C | ENSP00000449216.1:n.313+8T>C | |
| ENST00000546424.5:c.453+8T>C | ENSP00000449584.1:n.453+8T>C | |
| ENST00000546969.1:n.476T>C | ||
| NM_001229.4:c.453+8T>C | NP_001220.2:n.453+8T>C | |
| NM_001278054.1:c.418+10245T>C | NP_001264983.1:n.418+10245T>C | |
| NM_032996.3:c.204+8T>C | NP_127463.2:n.204+8T>C | |
| NR_102732.1:n.698+8T>C | ||
| NR_102733.1:n.558+8T>C | ||
| XM_005246014.2:c.204+8T>C | XP_005246071.1:n.204+8T>C | |
| XM_011542270.1:c.453+8T>C | XP_011540572.1:n.453+8T>C | |
| XM_011542271.1:c.204+8T>C | XP_011540573.1:n.204+8T>C | |
| XM_011542272.1:c.204+8T>C | XP_011540574.1:n.204+8T>C | |
| XM_011542273.1:c.453+8T>C | XP_011540575.1:n.453+8T>C | |
| XR_946778.1:n.618+8T>C | ||
| XM_011542273.3:c.453+8T>C | XP_011540575.1:n.453+8T>C | |
| NM_001229.5:c.453+8T>C MANE Select | NP_001220.2:n.453+8T>C | |
| NM_001278054.2:c.418+10245T>C | NP_001264983.1:n.418+10245T>C | |
| NR_102732.2:n.468+8T>C | ||
| NR_102733.2:n.328+8T>C |