Linked Data
ClinVar Variation Id:
411792
dbSNP Id:
rs540868733
ExAC:
8:90996747 C / T
gnomAD v2:
8-90996747-C-T
gnomAD v3:
8-89984519-C-T
gnomAD v4:
8-89984519-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.89984519C>T , CM000670.2:g.89984519C>T | GRCh38 |
| NC_000008.10:g.90996747C>T , CM000670.1:g.90996747C>T | GRCh37 |
| NC_000008.9:g.91065923C>T | NCBI36 |
| NG_008860.1:g.5153G>A , LRG_158:g.5153G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000494804.2:n.141+6G>A | ||
| ENST00000523444.2:c.-260+6G>A | ENSP00000428252.2:n.-260+6G>A | |
| ENST00000697292.1:c.37+6G>A | ENSP00000513229.1:n.37+6G>A | |
| ENST00000697293.1:c.37+6G>A | ENSP00000513230.1:n.37+6G>A | |
| ENST00000697294.1:c.37+6G>A | ENSP00000513231.1:n.37+6G>A | |
| ENST00000697295.1:c.37+6G>A | ENSP00000513232.1:n.37+6G>A | |
| ENST00000697296.1:c.37+6G>A | ENSP00000513233.1:n.37+6G>A | |
| ENST00000697297.1:n.143+6G>A | ||
| ENST00000697298.1:c.-443+6G>A | ENSP00000513234.1:n.-443+6G>A | |
| ENST00000697299.1:c.-76+6G>A | ENSP00000513235.1:n.-76+6G>A | |
| ENST00000697300.1:c.-260+6G>A | ENSP00000513236.1:n.-260+6G>A | |
| ENST00000697301.1:c.-260+6G>A | ENSP00000513237.1:n.-260+6G>A | |
| ENST00000697302.1:c.37+6G>A | ENSP00000513238.1:n.37+6G>A | |
| ENST00000697303.1:c.37+6G>A | ENSP00000513239.1:n.37+6G>A | |
| ENST00000697304.1:c.37+6G>A | ENSP00000513240.1:n.37+6G>A | |
| ENST00000697306.1:c.37+6G>A | ENSP00000513241.1:n.37+6G>A | |
| ENST00000697307.1:c.37+6G>A | ENSP00000513242.1:n.37+6G>A | |
| ENST00000697308.1:c.37+6G>A | ENSP00000513243.1:n.37+6G>A | |
| ENST00000697309.1:c.37+6G>A | ENSP00000513244.1:n.37+6G>A | |
| ENST00000697310.1:c.37+6G>A | ENSP00000513245.1:n.37+6G>A | |
| ENST00000697311.1:c.37+6G>A | ENSP00000513246.1:n.37+6G>A | |
| ENST00000697312.1:c.37+6G>A | ENSP00000513247.1:n.37+6G>A | |
| ENST00000697313.1:n.149+6G>A | ||
| ENST00000697314.1:n.149+6G>A | ||
| ENST00000697315.1:c.37+6G>A | ENSP00000513248.1:n.37+6G>A | |
| ENST00000697316.1:n.158+6G>A | ||
| ENST00000697317.1:n.147+6G>A | ||
| ENST00000697318.1:n.149+6G>A | ||
| ENST00000265433.8:c.37+6G>A MANE Select | ENSP00000265433.4:n.37+6G>A | |
| ENST00000265433.7:c.37+6G>A | ENSP00000265433.3:n.37+6G>A | |
| ENST00000396252.6:c.37+6G>A | ENSP00000379551.2:n.37+6G>A | |
| ENST00000494804.1:n.141+6G>A | ||
| ENST00000519426.5:c.37+6G>A | ENSP00000430983.1:n.37+6G>A | |
| ENST00000523444.1:c.37+6G>A | ENSP00000428252.1:n.37+6G>A | |
| NM_001024688.2:c.-260+6G>A | NP_001019859.1:n.-260+6G>A | |
| NM_002485.4:c.37+6G>A , LRG_158t1:c.37+6G>A | NP_002476.2:n.37+6G>A | |
| XM_011517046.1:c.37+6G>A | XP_011515348.1:n.37+6G>A | |
| XR_928335.1:n.174+6G>A | ||
| XM_017013460.1:c.-983+6G>A | XP_016868949.1:n.-983+6G>A | |
| XM_017013462.2:c.-789+6G>A | XP_016868951.1:n.-789+6G>A | |
| XM_024447165.1:c.-933+6G>A | XP_024302933.1:n.-933+6G>A | |
| NM_002485.5:c.37+6G>A MANE Select | NP_002476.2:n.37+6G>A | |
| NM_001024688.3:c.-260+6G>A | NP_001019859.1:n.-260+6G>A |