ClinVar RCV:
ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000359 (NFE)
Exomes Max Group AF
0.00000309 (NFE)
Revel Score:
ENST00000481110
0.783
ENST00000440486 (MANE Select)
0.783
ENST00000260795
0.783
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.1803744A>G , CM000666.2:g.1803744A>G | GRCh38 |
| NC_000004.11:g.1805471A>G , CM000666.1:g.1805471A>G | GRCh37 |
| NC_000004.10:g.1775269A>G | NCBI36 |
| NG_012632.1:g.15433A>G , LRG_1021:g.15433A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000340107.9:c.1082-586A>G | ENSP00000339824.4:n.1082-586A>G | |
| ENST00000260795.8:c.*39A>G | ENSP00000260795.3:n.*39A>G | |
| ENST00000352904.6:c.931-1080A>G | ENSP00000231803.1:n.931-1080A>G | |
| ENST00000412135.7:c.971A>G | ENSP00000412903.3:p.Asn324Ser | |
| ENST00000440486.8:c.983A>G MANE Select | ENSP00000414914.2:p.Asn328Ser | |
| ENST00000481110.7:c.983A>G | ENSP00000420533.2:p.Asn328Ser | |
| ENST00000643463.1:n.227-586A>G | ||
| ENST00000260795.6:c.983A>G | ENSP00000260795.2:p.Asn328Ser | |
| ENST00000340107.8:c.1082-586A>G | ENSP00000339824.4:n.1082-586A>G | |
| ENST00000352904.5:c.931-1080A>G | ENSP00000231803.1:n.931-1080A>G | |
| ENST00000412135.6:c.931-1080A>G | ENSP00000412903.2:n.931-1080A>G | |
| ENST00000440486.6:c.983A>G | ENSP00000414914.2:p.Asn328Ser | |
| ENST00000481110.6:c.983A>G | ENSP00000420533.2:p.Asn328Ser | |
| ENST00000613647.4:c.*39A>G | ENSP00000479472.1:n.*39A>G | |
| NM_000142.4:c.983A>G , LRG_1021t1:c.983A>G | NP_000133.1:p.Asn328Ser | |
| NM_001163213.1:c.1082-586A>G , LRG_1021t2:c.1082-586A>G | NP_001156685.1:n.1082-586A>G | |
| NM_022965.3:c.931-1080A>G | NP_075254.1:n.931-1080A>G | |
| XM_006713868.1:c.1082-586A>G | XP_006713931.1:n.1082-586A>G | |
| XM_006713869.1:c.1082-586A>G | XP_006713932.1:n.1082-586A>G | |
| XM_006713870.1:c.1082-586A>G | XP_006713933.1:n.1082-586A>G | |
| XM_006713871.1:c.1082-586A>G | XP_006713934.1:n.1082-586A>G | |
| XM_006713872.1:c.983A>G | XP_006713935.1:p.Asn328Ser | |
| XM_006713873.1:c.983A>G | XP_006713936.1:p.Asn328Ser | |
| XM_011513420.1:c.983A>G | XP_011511722.1:p.Asn328Ser | |
| XM_011513422.1:c.983A>G | XP_011511724.1:p.Asn328Ser | |
| NM_001354809.1:c.983A>G | NP_001341738.1:p.Asn328Ser | |
| NM_001354810.1:c.983A>G | NP_001341739.1:p.Asn328Ser | |
| NR_148971.1:n.1390A>G | ||
| NM_001354809.2:c.983A>G | NP_001341738.1:p.Asn328Ser | |
| NM_001354810.2:c.983A>G | NP_001341739.1:p.Asn328Ser | |
| NR_148971.2:n.1409A>G | ||
| NM_000142.5:c.983A>G MANE Select | NP_000133.1:p.Asn328Ser | |
| NM_001163213.2:c.1082-586A>G | NP_001156685.1:n.1082-586A>G | |
| NM_022965.4:c.931-1080A>G | NP_075254.1:n.931-1080A>G |