Linked Data
dbSNP Id:
rs11761199
gnomAD v2:
7-128581835-A-G
gnomAD v3:
7-128941781-A-G
gnomAD v4:
7-128941781-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.128941781A>G , CM000669.2:g.128941781A>G | GRCh38 |
| NC_000007.13:g.128581835A>G , CM000669.1:g.128581835A>G | GRCh37 |
| NC_000007.12:g.128369071A>G | NCBI36 |
| NG_012306.1:g.8842A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000700148.1:n.53-290A>G | ||
| ENST00000700149.1:c.-11-290A>G | ENSP00000514825.1:n.-11-290A>G | |
| ENST00000700150.1:c.-11-290A>G | ENSP00000514826.1:n.-11-290A>G | |
| ENST00000357234.10:c.-11-290A>G MANE Select | ENSP00000349770.5:n.-11-290A>G | |
| ENST00000489702.6:c.-11-290A>G | ENSP00000418037.2:n.-11-290A>G | |
| ENST00000650798.1:n.30-290A>G | ||
| ENST00000652142.1:n.22-290A>G | ||
| ENST00000652525.1:c.-11-290A>G | ENSP00000498293.1:n.-11-290A>G | |
| ENST00000249375.8:c.-11-290A>G | ENSP00000249375.4:n.-11-290A>G | |
| ENST00000357234.9:c.-11-290A>G | ENSP00000349770.5:n.-11-290A>G | |
| ENST00000402030.6:c.-11-290A>G | ENSP00000385352.2:n.-11-290A>G | |
| ENST00000461416.1:n.70-290A>G | ||
| ENST00000464557.5:c.-11-290A>G | ENSP00000419056.1:n.-11-290A>G | |
| ENST00000465603.5:c.-11-290A>G | ENSP00000418534.1:n.-11-290A>G | |
| ENST00000467002.1:c.-11-290A>G | ENSP00000417454.1:n.-11-290A>G | |
| ENST00000473745.5:c.-11-290A>G | ENSP00000419149.1:n.-11-290A>G | |
| ENST00000473787.5:c.-11-290A>G | ENSP00000420274.1:n.-11-290A>G | |
| ENST00000477535.5:c.-11-290A>G | ENSP00000419950.1:n.-11-290A>G | |
| ENST00000479582.5:c.-11-290A>G | ENSP00000417770.1:n.-11-290A>G | |
| ENST00000488569.5:n.114-290A>G | ||
| ENST00000489702.5:c.-11-290A>G | ENSP00000418037.1:n.-11-290A>G | |
| ENST00000613821.4:c.-11-290A>G | ENSP00000480058.1:n.-11-290A>G | |
| ENST00000619830.1:c.-11-290A>G | ENSP00000483292.1:n.-11-290A>G | |
| NM_001098627.3:c.-11-290A>G | NP_001092097.2:n.-11-290A>G | |
| NM_001098629.2:c.-11-290A>G | NP_001092099.1:n.-11-290A>G | |
| NM_001098630.2:c.-11-290A>G | NP_001092100.1:n.-11-290A>G | |
| NM_001242452.2:c.-11-290A>G | NP_001229381.1:n.-11-290A>G | |
| NM_032643.4:c.-11-290A>G | NP_116032.1:n.-11-290A>G | |
| XM_005250317.2:c.-11-290A>G | XP_005250374.1:n.-11-290A>G | |
| XM_006715974.2:c.-11-290A>G | XP_006716037.1:n.-11-290A>G | |
| XM_011516158.1:c.-11-290A>G | XP_011514460.1:n.-11-290A>G | |
| XM_011516159.1:c.-11-290A>G | XP_011514461.1:n.-11-290A>G | |
| XM_011516160.1:c.-11-290A>G | XP_011514462.1:n.-11-290A>G | |
| XM_011516161.1:c.-11-290A>G | XP_011514463.1:n.-11-290A>G | |
| XM_011516162.1:c.-11-290A>G | XP_011514464.1:n.-11-290A>G | |
| XM_011516163.1:c.-11-290A>G | XP_011514465.1:n.-11-290A>G | |
| XM_011516164.1:c.-11-290A>G | XP_011514466.1:n.-11-290A>G | |
| NM_001347928.1:c.-11-290A>G | NP_001334857.1:n.-11-290A>G | |
| NM_001364314.1:c.-11-290A>G | NP_001351243.1:n.-11-290A>G | |
| XM_011516158.3:c.-11-290A>G | XP_011514460.1:n.-11-290A>G | |
| XM_011516159.3:c.-11-290A>G | XP_011514461.1:n.-11-290A>G | |
| NM_001098629.3:c.-11-290A>G MANE Select | NP_001092099.1:n.-11-290A>G | |
| NM_001098630.3:c.-11-290A>G | NP_001092100.1:n.-11-290A>G | |
| NM_001242452.3:c.-11-290A>G | NP_001229381.1:n.-11-290A>G | |
| NM_001347928.2:c.-11-290A>G | NP_001334857.1:n.-11-290A>G | |
| NM_001364314.2:c.-11-290A>G | NP_001351243.1:n.-11-290A>G | |
| NM_001098627.4:c.-11-290A>G | NP_001092097.2:n.-11-290A>G | |
| NM_032643.5:c.-11-290A>G | NP_116032.1:n.-11-290A>G |