Linked Data
ClinVar Variation Id:
40115
ClinVar RCV Id:
RCV000033173
dbSNP Id:
rs398122932
PubMed:
PMID:21719175
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.88008039_88008040insAGG , CM000666.2:g.88008039_88008040insAGG | GRCh38 |
| NC_000004.11:g.88929191_88929192insAGG , CM000666.1:g.88929191_88929192insAGG | GRCh37 |
| NC_000004.10:g.89148215_89148216insAGG | NCBI36 |
| NG_008604.1:g.5372_5373insAGG |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000237596.7:c.306_307insAGG MANE Select | ENSP00000237596.2:p.Glu102_Val103insArg | |
| ENST00000237596.6:c.306_307insAGG | ENSP00000237596.2:p.Glu102_Val103insArg | |
| NM_000297.3:c.306_307insAGG | NP_000288.1:p.Glu102_Val103insArg | |
| XM_011532028.1:c.306_307insAGG | XP_011530330.1:p.Glu102_Val103insArg | |
| XR_244632.2:n.401_402insAGG | ||
| NR_156488.1:n.393_394insAGG | ||
| XM_011532028.2:c.306_307insAGG | XP_011530330.1:p.Glu102_Val103insArg | |
| NM_000297.4:c.306_307insAGG MANE Select | NP_000288.1:p.Glu102_Val103insArg | |
| NR_156488.2:n.405_406insAGG |