Linked Data
ClinVar Variation Id:
660905
ClinVar RCV Id:
RCV000818205
dbSNP Id:
rs199711270
ExAC:
3:50380412 G / T
gnomAD v3:
3-50342981-G-T
gnomAD v4:
3-50342981-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.50342981G>T , CM000665.2:g.50342981G>T | GRCh38 |
| NC_000003.11:g.50380412G>T , CM000665.1:g.50380412G>T | GRCh37 |
| NC_000003.10:g.50355416G>T | NCBI36 |
| NG_023270.1:g.2956C>A | |
| NG_042828.1:g.7766C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000231749.8:c.637C>A MANE Select | ENSP00000231749.3:p.His213Asn | |
| ENST00000231749.7:c.637C>A | ENSP00000231749.3:p.His213Asn | |
| ENST00000360165.7:c.599+137C>A | ENSP00000353289.3:n.599+137C>A | |
| ENST00000442887.1:c.508C>A | ENSP00000393687.1:p.His170Asn | |
| ENST00000443080.5:c.*389C>A | ENSP00000415661.1:n.*389C>A | |
| ENST00000475688.1:n.188C>A | ||
| NM_001308379.1:c.599+137C>A | NP_001295308.1:n.599+137C>A | |
| NM_015896.2:c.637C>A | NP_056980.2:p.His213Asn | |
| NM_015896.3:c.637C>A | NP_056980.2:p.His213Asn | |
| XM_005265216.2:c.400C>A | XP_005265273.1:p.His134Asn | |
| XM_005265216.3:c.400C>A | XP_005265273.1:p.His134Asn | |
| NM_015896.4:c.637C>A MANE Select | NP_056980.2:p.His213Asn | |
| NM_001308379.2:c.599+137C>A | NP_001295308.1:n.599+137C>A |