Linked Data
ClinVar Variation Id:
289639
dbSNP Id:
rs747493997
gnomAD v2:
14-77746432-T-A
gnomAD v3:
14-77280089-T-A
gnomAD v4:
14-77280089-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.77280089T>A , CM000676.2:g.77280089T>A | GRCh38 |
| NC_000014.8:g.77746432T>A , CM000676.1:g.77746432T>A | GRCh37 |
| NC_000014.7:g.76816185T>A | NCBI36 |
| NG_008897.1:g.45794A>T , LRG_844:g.45794A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000555134.2:n.365-9A>T | ||
| ENST00000556394.2:c.1267-9A>T | ENSP00000451967.2:n.1267-9A>T | |
| ENST00000682247.1:c.1726-9A>T | ENSP00000507213.1:n.1726-9A>T | |
| ENST00000682382.1:c.2374-9A>T | ||
| ENST00000682395.1:n.1904-9A>T | ||
| ENST00000682459.1:n.1429-9A>T | ||
| ENST00000682467.1:c.1726-9A>T | ENSP00000508062.1:n.1726-9A>T | |
| ENST00000682560.1:c.302-9A>T | ENSP00000507033.1:n.302-9A>T | |
| ENST00000682795.1:c.1726-9A>T | ENSP00000507574.1:n.1726-9A>T | |
| ENST00000682895.1:n.1442-9A>T | ||
| ENST00000682925.1:c.216-9A>T | ||
| ENST00000682955.1:n.1014-9A>T | ||
| ENST00000682973.1:c.73-161A>T | ENSP00000508268.1:n.73-161A>T | |
| ENST00000683095.1:c.132-9A>T | ENSP00000508040.1:n.132-9A>T | |
| ENST00000683188.1:c.1701-9A>T | ||
| ENST00000683380.1:n.1390-9A>T | ||
| ENST00000683828.1:c.1435-9A>T | ||
| ENST00000684172.1:c.102-9A>T | ENSP00000508391.1:n.102-9A>T | |
| ENST00000684259.1:n.2540-9A>T | ||
| ENST00000684538.1:n.152-9A>T | ||
| ENST00000684549.1:n.1277-9A>T | ||
| ENST00000261534.9:c.1726-9A>T MANE Select | ENSP00000261534.4:n.1726-9A>T | |
| ENST00000261534.8:c.1726-9A>T | ENSP00000261534.4:n.1726-9A>T | |
| ENST00000452340.7:n.1749-9A>T | ||
| ENST00000554767.5:n.2512-9A>T | ||
| ENST00000555134.1:n.365-9A>T | ||
| ENST00000556171.1:c.129-9A>T | ||
| NM_013382.5:c.1726-9A>T , LRG_844t1:c.1726-9A>T | NP_037514.2:n.1726-9A>T | |
| XM_011536675.1:c.1726-9A>T | XP_011534977.1:n.1726-9A>T | |
| XM_011536676.1:c.1393-9A>T | XP_011534978.1:n.1393-9A>T | |
| XM_011536677.1:c.1267-9A>T | XP_011534979.1:n.1267-9A>T | |
| XM_011536678.1:c.1726-9A>T | XP_011534980.1:n.1726-9A>T | |
| XM_011536679.1:c.820-9A>T | XP_011534981.1:n.820-9A>T | |
| XR_943416.1:n.1929-9A>T | ||
| XM_011536675.2:c.1726-9A>T | XP_011534977.1:n.1726-9A>T | |
| XM_011536676.2:c.1393-9A>T | XP_011534978.1:n.1393-9A>T | |
| XM_011536677.3:c.1267-9A>T | XP_011534979.1:n.1267-9A>T | |
| XR_001750279.1:n.1926-9A>T | ||
| XR_001750282.1:n.2379-9A>T | ||
| XR_943416.3:n.1927-9A>T | ||
| NM_013382.6:c.1726-9A>T | NP_037514.2:n.1726-9A>T | |
| NM_013382.7:c.1726-9A>T MANE Select | NP_037514.2:n.1726-9A>T |