Linked Data
ClinVar Variation Id:
2075609
ClinVar RCV Id:
RCV002967858
dbSNP Id:
rs764145478
ExAC:
12:52307092 G / A
gnomAD v2:
12-52307092-G-A
gnomAD v3:
12-51913308-G-A
gnomAD v4:
12-51913308-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.51913308G>A , CM000674.2:g.51913308G>A | GRCh38 |
| NC_000012.11:g.52307092G>A , CM000674.1:g.52307092G>A | GRCh37 |
| NC_000012.10:g.50593359G>A | NCBI36 |
| NG_009549.1:g.10891G>A , LRG_543:g.10891G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000547400.6:c.313G>A | ENSP00000446724.2:p.Asp105Asn | |
| ENST00000551576.6:c.271G>A | ENSP00000455848.2:p.Asp91Asn | |
| ENST00000552678.2:c.271G>A | ENSP00000457394.2:p.Asp91Asn | |
| ENST00000388922.9:c.271G>A MANE Select | ENSP00000373574.4:p.Asp91Asn | |
| ENST00000388922.8:c.271G>A | ENSP00000373574.4:p.Asp91Asn | |
| ENST00000419526.6:c.103+773G>A | ENSP00000392492.2:n.103+773G>A | |
| ENST00000547400.5:c.313G>A | ENSP00000446724.1:p.Asp105Asn | |
| ENST00000550683.5:c.313G>A | ENSP00000447884.1:p.Asp105Asn | |
| NM_000020.2:c.271G>A , LRG_543t1:c.271G>A | NP_000011.2:p.Asp91Asn | |
| NM_001077401.1:c.271G>A | NP_001070869.1:p.Asp91Asn | |
| XM_005269235.2:c.271G>A | XP_005269292.1:p.Asp91Asn | |
| XM_011539008.1:c.313G>A | XP_011537310.1:p.Asp105Asn | |
| XM_024449279.1:c.-419G>A | XP_024305047.1:n.-419G>A | |
| NM_000020.3:c.271G>A MANE Select | NP_000011.2:p.Asp91Asn | |
| NM_001077401.2:c.271G>A | NP_001070869.1:p.Asp91Asn |