Linked Data
ClinVar Variation Id:
412479
dbSNP Id:
rs201385062
ExAC:
1:17350569 C / T
gnomAD v2:
1-17350569-C-T
gnomAD v3:
1-17024074-C-T
gnomAD v4:
1-17024074-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17024074C>T , CM000663.2:g.17024074C>T | GRCh38 |
| NC_000001.10:g.17350569C>T , CM000663.1:g.17350569C>T | GRCh37 |
| NC_000001.9:g.17223156C>T | NCBI36 |
| NG_012340.1:g.35097G>A , LRG_316:g.35097G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000463045.3:c.370G>A | ENSP00000481376.2:p.Asp124Asn | |
| ENST00000491274.6:c.499G>A | ENSP00000480482.2:p.Asp167Asn | |
| ENST00000375499.8:c.541G>A MANE Select | ENSP00000364649.3:p.Asp181Asn | |
| ENST00000375499.7:c.541G>A | ENSP00000364649.3:p.Asp181Asn | |
| ENST00000485515.5:n.475G>A | ||
| ENST00000491274.5:c.499G>A | ENSP00000480482.1:p.Asp167Asn | |
| NM_003000.2:c.541G>A , LRG_316t1:c.541G>A | NP_002991.2:p.Asp181Asn | |
| NM_003000.3:c.541G>A MANE Select | NP_002991.2:p.Asp181Asn |