Linked Data
ClinVar Variation Id:
219440
dbSNP Id:
rs864622090
gnomAD v2:
8-90976737-T-A
gnomAD v3:
8-89964509-T-A
gnomAD v4:
8-89964509-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.89964509T>A , CM000670.2:g.89964509T>A | GRCh38 |
| NC_000008.10:g.90976737T>A , CM000670.1:g.90976737T>A | GRCh37 |
| NC_000008.9:g.91045913T>A | NCBI36 |
| NG_008860.1:g.25163A>T , LRG_158:g.25163A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000494804.2:n.2199-2A>T | ||
| ENST00000517337.2:c.651-2A>T | ENSP00000429971.2:n.651-2A>T | |
| ENST00000523444.2:c.651-2A>T | ENSP00000428252.2:n.651-2A>T | |
| ENST00000697292.1:c.897-2A>T | ENSP00000513229.1:n.897-2A>T | |
| ENST00000697293.1:c.897-2A>T | ENSP00000513230.1:n.897-2A>T | |
| ENST00000697294.1:c.*508-2A>T | ENSP00000513231.1:n.*508-2A>T | |
| ENST00000697295.1:c.*206-2A>T | ENSP00000513232.1:n.*206-2A>T | |
| ENST00000697296.1:c.*565-2A>T | ENSP00000513233.1:n.*565-2A>T | |
| ENST00000697297.1:n.2682-2A>T | ||
| ENST00000697298.1:c.651-2A>T | ENSP00000513234.1:n.651-2A>T | |
| ENST00000697299.1:c.651-2A>T | ENSP00000513235.1:n.651-2A>T | |
| ENST00000697300.1:c.*501-2A>T | ENSP00000513236.1:n.*501-2A>T | |
| ENST00000697301.1:c.*418-2A>T | ENSP00000513237.1:n.*418-2A>T | |
| ENST00000697302.1:c.*418-2A>T | ENSP00000513238.1:n.*418-2A>T | |
| ENST00000697303.1:c.*501-2A>T | ENSP00000513239.1:n.*501-2A>T | |
| ENST00000697304.1:c.585-2A>T | ENSP00000513240.1:n.585-2A>T | |
| ENST00000697306.1:c.481-5655A>T | ENSP00000513241.1:n.481-5655A>T | |
| ENST00000697307.1:c.897-2A>T | ENSP00000513242.1:n.897-2A>T | |
| ENST00000697308.1:c.897-2A>T | ENSP00000513243.1:n.897-2A>T | |
| ENST00000697309.1:c.897-2A>T | ENSP00000513244.1:n.897-2A>T | |
| ENST00000697310.1:c.897-2A>T | ENSP00000513245.1:n.897-2A>T | |
| ENST00000697311.1:c.897-2A>T | ENSP00000513246.1:n.897-2A>T | |
| ENST00000697312.1:c.*295-2A>T | ENSP00000513247.1:n.*295-2A>T | |
| ENST00000697313.1:n.2687+5855A>T | ||
| ENST00000697314.1:n.2688-2A>T | ||
| ENST00000697315.1:c.897-2A>T | ENSP00000513248.1:n.897-2A>T | |
| ENST00000697316.1:n.1018-2A>T | ||
| ENST00000697317.1:n.1007-2A>T | ||
| ENST00000697318.1:n.1009-2A>T | ||
| ENST00000265433.8:c.897-2A>T MANE Select | ENSP00000265433.4:n.897-2A>T | |
| ENST00000265433.7:c.897-2A>T | ENSP00000265433.3:n.897-2A>T | |
| ENST00000396252.6:c.*770-2A>T | ENSP00000379551.2:n.*770-2A>T | |
| ENST00000409330.5:c.651-2A>T | ENSP00000386924.1:n.651-2A>T | |
| NM_001024688.2:c.651-2A>T | NP_001019859.1:n.651-2A>T | |
| NM_002485.4:c.897-2A>T , LRG_158t1:c.897-2A>T | NP_002476.2:n.897-2A>T | |
| XM_011517044.1:c.873-2A>T | XP_011515346.1:n.873-2A>T | |
| XM_011517045.1:c.651-2A>T | XP_011515347.1:n.651-2A>T | |
| XM_011517046.1:c.897-2A>T | XP_011515348.1:n.897-2A>T | |
| XR_928335.1:n.1034-2A>T | ||
| XM_017013460.1:c.18-2A>T | XP_016868949.1:n.18-2A>T | |
| XM_017013462.2:c.18-2A>T | XP_016868951.1:n.18-2A>T | |
| XM_024447163.1:c.651-2A>T | XP_024302931.1:n.651-2A>T | |
| XM_024447164.1:c.651-2A>T | XP_024302932.1:n.651-2A>T | |
| XM_024447165.1:c.18-2A>T | XP_024302933.1:n.18-2A>T | |
| NM_002485.5:c.897-2A>T MANE Select | NP_002476.2:n.897-2A>T | |
| NM_001024688.3:c.651-2A>T | NP_001019859.1:n.651-2A>T |