Linked Data
ClinVar Variation Id:
412490
dbSNP Id:
rs200021702
ExAC:
1:17355166 C / T
gnomAD v2:
1-17355166-C-T
gnomAD v4:
1-17028671-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17028671C>T , CM000663.2:g.17028671C>T | GRCh38 |
| NC_000001.10:g.17355166C>T , CM000663.1:g.17355166C>T | GRCh37 |
| NC_000001.9:g.17227753C>T | NCBI36 |
| NG_012340.1:g.30500G>A , LRG_316:g.30500G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000463045.3:c.181G>A | ENSP00000481376.2:p.Asp61Asn | |
| ENST00000491274.6:c.310G>A | ENSP00000480482.2:p.Asp104Asn | |
| ENST00000375499.8:c.352G>A MANE Select | ENSP00000364649.3:p.Asp118Asn | |
| ENST00000375499.7:c.352G>A | ENSP00000364649.3:p.Asp118Asn | |
| ENST00000463045.2:c.181G>A | ENSP00000481376.1:p.Asp61Asn | |
| ENST00000475506.1:n.269G>A | ||
| ENST00000485515.5:n.340G>A | ||
| ENST00000491274.5:c.310G>A | ENSP00000480482.1:p.Asp104Asn | |
| NM_003000.2:c.352G>A , LRG_316t1:c.352G>A | NP_002991.2:p.Asp118Asn | |
| NM_003000.3:c.352G>A MANE Select | NP_002991.2:p.Asp118Asn |