COSMIC:
COSM148079 (not active)
Revel Score:
ENST00000379925
0.137
ENST00000262135
0.137
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.2767998 (EAS)
Genomes Max Group AF
0.28957061 (EAS)
Exomes Max Group AF
0.27382165 (EAS)
ClinVar RCV:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.53605526C>T , CM000678.2:g.53605526C>T | GRCh38 |
| NC_000016.9:g.53639438C>T , CM000678.1:g.53639438C>T | GRCh37 |
| NC_000016.8:g.52196939C>T | NCBI36 |
| NG_008991.2:g.103334G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262135.9:c.3550G>A | ENSP00000262135.4:p.Asp1184Asn | |
| ENST00000565343.2:n.4214G>A | ||
| ENST00000621565.5:c.3652G>A | ENSP00000480698.1:p.Asp1218Asn | |
| ENST00000647211.2:c.3790G>A MANE Select | ENSP00000493946.1:p.Asp1264Asn | |
| ENST00000680193.1:c.*550G>A | ENSP00000506379.1:n.*550G>A | |
| ENST00000681587.1:n.1562G>A | ||
| ENST00000262135.8:c.3550G>A | ENSP00000262135.4:p.Asp1184Asn | |
| ENST00000379925.7:c.3790G>A | ENSP00000369257.3:p.Asp1264Asn | |
| ENST00000563746.5:c.3688G>A | ENSP00000457889.1:p.Asp1230Asn | |
| ENST00000564374.5:c.3652G>A | ENSP00000456534.1:p.Asp1218Asn | |
| ENST00000621565.4:c.3652G>A | ENSP00000480698.1:p.Asp1218Asn | |
| NM_001127897.1:c.3550G>A | NP_001121369.1:p.Asp1184Asn | |
| NM_001127897.2:c.3550G>A | NP_001121369.1:p.Asp1184Asn | |
| NM_001308334.1:c.3652G>A | NP_001295263.1:p.Asp1218Asn | |
| NM_015272.2:c.3790G>A | NP_056087.2:p.Asp1264Asn | |
| NM_015272.3:c.3790G>A | NP_056087.2:p.Asp1264Asn | |
| XM_005255867.1:c.3688G>A | XP_005255924.1:p.Asp1230Asn | |
| XM_005255868.1:c.3664G>A | XP_005255925.1:p.Asp1222Asn | |
| XM_005255871.2:c.1897G>A | XP_005255928.1:p.Asp633Asn | |
| XM_011522968.1:c.3790G>A | XP_011521270.1:p.Asp1264Asn | |
| XM_011522974.1:c.1897G>A | XP_011521276.1:p.Asp633Asn | |
| NM_001127897.3:c.3550G>A | NP_001121369.1:p.Asp1184Asn | |
| NM_001308334.2:c.3652G>A | NP_001295263.1:p.Asp1218Asn | |
| NM_001330538.1:c.3688G>A | NP_001317467.1:p.Asp1230Asn | |
| NM_015272.4:c.3790G>A | NP_056087.2:p.Asp1264Asn | |
| XM_005255868.2:c.3664G>A | XP_005255925.1:p.Asp1222Asn | |
| XM_017023094.2:c.3802G>A | XP_016878583.1:p.Asp1268Asn | |
| XM_017023095.2:c.3562G>A | XP_016878584.1:p.Asp1188Asn | |
| XM_017023098.1:c.2035G>A | XP_016878587.1:p.Asp679Asn | |
| XM_017023099.1:c.2035G>A | XP_016878588.1:p.Asp679Asn | |
| NM_015272.5:c.3790G>A MANE Select | NP_056087.2:p.Asp1264Asn | |
| NM_001127897.4:c.3550G>A | NP_001121369.1:p.Asp1184Asn | |
| NM_001330538.2:c.3688G>A | NP_001317467.1:p.Asp1230Asn | |
| NM_001308334.3:c.3652G>A | NP_001295263.1:p.Asp1218Asn |