Linked Data
ClinVar Variation Id:
30669
dbSNP Id:
rs201868115
ExAC:
3:185237074 G / T
gnomAD v2:
3-185237074-G-T
gnomAD v3:
3-185519286-G-T
gnomAD v4:
3-185519286-G-T
PubMed:
PMID:18830268
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.185519286G>T , CM000665.2:g.185519286G>T | GRCh38 |
| NC_000003.11:g.185237074G>T , CM000665.1:g.185237074G>T | GRCh37 |
| NC_000003.10:g.186719768G>T | NCBI36 |
| NG_012183.1:g.38296C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000296252.9:c.742C>A MANE Select | ENSP00000296252.4:p.His248Asn | |
| ENST00000296252.8:c.742C>A | ENSP00000296252.4:p.His248Asn | |
| ENST00000424591.6:c.640C>A | ENSP00000396384.2:p.His214Asn | |
| ENST00000452897.1:c.114C>A | ||
| NM_139248.2:c.742C>A | NP_640341.1:p.His248Asn | |
| XM_006713529.2:c.652C>A | XP_006713592.1:p.His218Asn | |
| XM_011512530.1:c.613C>A | XP_011510832.1:p.His205Asn | |
| XM_011512531.1:c.613C>A | XP_011510833.1:p.His205Asn | |
| XM_006713529.4:c.652C>A | XP_006713592.1:p.His218Asn | |
| XM_011512530.3:c.613C>A | XP_011510832.1:p.His205Asn | |
| XM_011512531.3:c.613C>A | XP_011510833.1:p.His205Asn | |
| XM_017005852.2:c.640C>A | XP_016861341.1:p.His214Asn | |
| NM_139248.3:c.742C>A MANE Select | NP_640341.1:p.His248Asn |