Linked Data
ClinVar Variation Id:
1976736
ClinVar RCV Id:
RCV002761024
dbSNP Id:
rs747791819
ExAC:
14:24550684 G / GT
gnomAD v2:
14-24550684-G-GT
gnomAD v4:
14-24081475-G-GT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.24081475_24081476insT , CM000676.2:g.24081475_24081476insT | GRCh38 |
| NC_000014.8:g.24550684_24550685insT , CM000676.1:g.24550684_24550685insT | GRCh37 |
| NC_000014.7:g.23620524_23620525insT | NCBI36 |
| NG_011697.1:g.8148_8149insA | |
| NG_011697.2:g.38539_38540insA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000561028.6:c.474_475insA MANE Select | ENSP00000454062.2:p.Arg159ThrfsTer? | |
| ENST00000396995.1:c.57_58insA | ENSP00000380191.1:p.Arg20ThrfsTer? | |
| ENST00000396997.1:c.474_475insA | ENSP00000380193.1:p.Arg159ThrfsTer? | |
| ENST00000397002.6:c.474_475insA | ENSP00000380197.2:p.Arg159ThrfsTer? | |
| ENST00000560550.1:c.57_58insA | ENSP00000452966.1:p.Arg20ThrfsTer? | |
| ENST00000561028.5:c.474_475insA | ENSP00000454062.1:p.Arg159ThrfsTer? | |
| NM_006177.3:c.474_475insA | NP_006168.1:p.Arg159ThrfsTer? | |
| XM_005267708.3:c.474_475insA | XP_005267765.1:p.Arg159ThrfsTer? | |
| XM_005267709.3:c.474_475insA | XP_005267766.1:p.Arg159ThrfsTer? | |
| XM_005267710.3:c.474_475insA | XP_005267767.1:p.Arg159ThrfsTer? | |
| XM_011536801.1:c.573_574insA | XP_011535103.1:p.Arg192ThrfsTer? | |
| XM_011536802.1:c.474_475insA | XP_011535104.1:p.Arg159ThrfsTer? | |
| XM_011536803.1:c.474_475insA | XP_011535105.1:p.Arg159ThrfsTer? | |
| XM_011536804.1:c.474_475insA | XP_011535106.1:p.Arg159ThrfsTer? | |
| XM_011536805.1:c.474_475insA | XP_011535107.1:p.Arg159ThrfsTer? | |
| XM_011536806.1:c.258_259insA | XP_011535108.1:p.Arg87ThrfsTer? | |
| NM_001354768.1:c.474_475insA | NP_001341697.1:p.Arg159ThrfsTer? | |
| NM_001354769.1:c.474_475insA | NP_001341698.1:p.Arg159ThrfsTer? | |
| NM_001354770.1:c.159_160insA | NP_001341699.1:p.Arg54ThrfsTer? | |
| NM_006177.4:c.474_475insA | NP_006168.1:p.Arg159ThrfsTer? | |
| XM_011536801.2:c.780_781insA | XP_011535103.2:p.Arg261ThrfsTer? | |
| XM_011536804.2:c.474_475insA | XP_011535106.1:p.Arg159ThrfsTer? | |
| XM_011536805.2:c.474_475insA | XP_011535107.1:p.Arg159ThrfsTer? | |
| XM_011536806.2:c.465_466insA | XP_011535108.2:p.Arg156ThrfsTer? | |
| NM_001354768.3:c.474_475insA MANE Select | NP_001341697.1:p.Arg159ThrfsTer? | |
| NM_001354770.2:c.159_160insA | NP_001341699.1:p.Arg54ThrfsTer? | |
| NM_006177.5:c.474_475insA | NP_006168.1:p.Arg159ThrfsTer? |