Linked Data
ClinVar Variation Id:
185026
dbSNP Id:
rs142301194
ExAC:
8:90949252 A / C
gnomAD v2:
8-90949252-A-C
gnomAD v3:
8-89937024-A-C
gnomAD v4:
8-89937024-A-C
PubMed:
PMID:28152038
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.89937024A>C , CM000670.2:g.89937024A>C | GRCh38 |
| NC_000008.10:g.90949252A>C , CM000670.1:g.90949252A>C | GRCh37 |
| NC_000008.9:g.91018428A>C | NCBI36 |
| NG_008860.1:g.52648T>G , LRG_158:g.52648T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000474821.2:n.3654+2T>G | ||
| ENST00000494804.2:n.3536+2T>G | ||
| ENST00000517337.2:c.1988+2T>G | ENSP00000429971.2:n.1988+2T>G | |
| ENST00000523444.2:c.1988+2T>G | ENSP00000428252.2:n.1988+2T>G | |
| ENST00000697292.1:c.2234+2T>G | ENSP00000513229.1:n.2234+2T>G | |
| ENST00000697293.1:c.2285+2T>G | ENSP00000513230.1:n.2285+2T>G | |
| ENST00000697294.1:c.*1845+2T>G | ENSP00000513231.1:n.*1845+2T>G | |
| ENST00000697295.1:c.*1543+2T>G | ENSP00000513232.1:n.*1543+2T>G | |
| ENST00000697296.1:c.*1902+2T>G | ENSP00000513233.1:n.*1902+2T>G | |
| ENST00000697297.1:n.4019+2T>G | ||
| ENST00000697298.1:c.1988+2T>G | ENSP00000513234.1:n.1988+2T>G | |
| ENST00000697299.1:c.1988+2T>G | ENSP00000513235.1:n.1988+2T>G | |
| ENST00000697300.1:c.*1838+2T>G | ENSP00000513236.1:n.*1838+2T>G | |
| ENST00000697301.1:c.*1755+2T>G | ENSP00000513237.1:n.*1755+2T>G | |
| ENST00000697302.1:c.*1755+2T>G | ENSP00000513238.1:n.*1755+2T>G | |
| ENST00000697303.1:c.*1838+2T>G | ENSP00000513239.1:n.*1838+2T>G | |
| ENST00000697304.1:c.1922+2T>G | ENSP00000513240.1:n.1922+2T>G | |
| ENST00000697305.1:n.2501+2T>G | ||
| ENST00000697306.1:c.*2785+2T>G | ENSP00000513241.1:n.*2785+2T>G | |
| ENST00000697307.1:c.2009+2T>G | ENSP00000513242.1:n.2009+2T>G | |
| ENST00000697308.1:c.2165+2T>G | ENSP00000513243.1:n.2165+2T>G | |
| ENST00000697309.1:c.2185-1412T>G | ENSP00000513244.1:n.2185-1412T>G | |
| ENST00000697310.1:c.2234+2T>G | ENSP00000513245.1:n.2234+2T>G | |
| ENST00000697311.1:c.*499+2T>G | ENSP00000513246.1:n.*499+2T>G | |
| ENST00000697312.1:c.*1687+2T>G | ENSP00000513247.1:n.*1687+2T>G | |
| ENST00000697313.1:n.2688-1412T>G | ||
| ENST00000697314.1:n.3637-1412T>G | ||
| ENST00000697315.1:c.*138+2T>G | ENSP00000513248.1:n.*138+2T>G | |
| ENST00000697316.1:n.2357T>G | ||
| ENST00000265433.8:c.2234+2T>G MANE Select | ENSP00000265433.4:n.2234+2T>G | |
| ENST00000265433.7:c.2234+2T>G | ENSP00000265433.3:n.2234+2T>G | |
| ENST00000396252.6:c.*2107+2T>G | ENSP00000379551.2:n.*2107+2T>G | |
| ENST00000409330.5:c.1988+2T>G | ENSP00000386924.1:n.1988+2T>G | |
| ENST00000474821.1:n.322+2T>G | ||
| ENST00000613033.1:c.344+2T>G | ENSP00000484487.1:n.344+2T>G | |
| NM_001024688.2:c.1988+2T>G | NP_001019859.1:n.1988+2T>G | |
| NM_002485.4:c.2234+2T>G , LRG_158t1:c.2234+2T>G | NP_002476.2:n.2234+2T>G | |
| XM_011517044.1:c.2210+2T>G | XP_011515346.1:n.2210+2T>G | |
| XM_011517045.1:c.1988+2T>G | XP_011515347.1:n.1988+2T>G | |
| XM_017013460.1:c.1355+2T>G | XP_016868949.1:n.1355+2T>G | |
| XM_017013462.2:c.1355+2T>G | XP_016868951.1:n.1355+2T>G | |
| XM_024447163.1:c.1988+2T>G | XP_024302931.1:n.1988+2T>G | |
| XM_024447164.1:c.1988+2T>G | XP_024302932.1:n.1988+2T>G | |
| XM_024447165.1:c.1355+2T>G | XP_024302933.1:n.1355+2T>G | |
| NM_002485.5:c.2234+2T>G MANE Select | NP_002476.2:n.2234+2T>G | |
| NM_001024688.3:c.1988+2T>G | NP_001019859.1:n.1988+2T>G |