Linked Data
ClinVar Variation Id:
574129
ClinVar RCV Id:
RCV002532340
dbSNP Id:
rs781659437
ExAC:
1:245027171 C / T
gnomAD v2:
1-245027171-C-T
gnomAD v4:
1-244863869-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.244863869C>T , CM000663.2:g.244863869C>T | GRCh38 |
| NC_000001.10:g.245027171C>T , CM000663.1:g.245027171C>T | GRCh37 |
| NC_000001.9:g.243093794C>T | NCBI36 |
| NG_042184.1:g.5657G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000704074.1:c.117G>A | ||
| ENST00000283179.14:c.439G>A | ENSP00000283179.10:p.Asp147Asn | |
| ENST00000444376.7:c.439G>A | ENSP00000393151.2:p.Asp147Asn | |
| ENST00000476241.2:n.624G>A | ||
| ENST00000638475.1:c.223G>A | ENSP00000491305.1:p.Asp75Asn | |
| ENST00000638952.1:n.670G>A | ||
| ENST00000640218.2:c.439G>A MANE Select | ENSP00000491215.1:p.Asp147Asn | |
| ENST00000640306.1:c.439G>A | ENSP00000491685.1:p.Asp147Asn | |
| ENST00000640440.1:c.139G>A | ENSP00000491263.1:p.Asp47Asn | |
| ENST00000649899.1:n.663G>A | ||
| ENST00000283179.13:c.439G>A | ENSP00000283179.9:p.Asp147Asn | |
| ENST00000444376.6:c.439G>A | ENSP00000393151.2:p.Asp147Asn | |
| ENST00000476241.1:n.623G>A | ||
| NM_004501.3:c.439G>A | NP_004492.2:p.Asp147Asn | |
| NM_031844.2:c.439G>A | NP_114032.2:p.Asp147Asn | |
| NM_031844.3:c.439G>A MANE Select | NP_114032.2:p.Asp147Asn |