Linked Data
ClinVar Variation Id:
753
dbSNP Id:
rs72554080
ExAC:
2:233612450 A / G
gnomAD v2:
2-233612450-A-G
gnomAD v3:
2-232747740-A-G
gnomAD v4:
2-232747740-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.232747740A>G , CM000664.2:g.232747740A>G | GRCh38 |
| NC_000002.11:g.233612450A>G , CM000664.1:g.233612450A>G | GRCh37 |
| NC_000002.10:g.233320694A>G | NCBI36 |
| NG_011847.1:g.55436A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373563.9:c.167A>G MANE Select | ENSP00000362664.5:p.Asn56Ser | |
| ENST00000424038.2:c.167A>G | ENSP00000399064.1:p.Asn56Ser | |
| ENST00000373563.8:c.167A>G | ENSP00000362664.4:p.Asn56Ser | |
| ENST00000409196.7:c.167A>G | ENSP00000387070.3:p.Asn56Ser | |
| ENST00000409451.7:c.167A>G | ENSP00000387170.3:p.Asn56Ser | |
| ENST00000409480.5:c.167A>G | ENSP00000386765.1:p.Asn56Ser | |
| ENST00000409547.5:c.167A>G | ENSP00000386537.1:p.Asn56Ser | |
| ENST00000421433.5:c.167A>G | ENSP00000402053.1:p.Asn56Ser | |
| ENST00000423659.5:c.167A>G | ENSP00000404195.1:p.Asn56Ser | |
| ENST00000424038.1:c.167A>G | ENSP00000399064.1:p.Asn56Ser | |
| ENST00000425040.5:c.167A>G | ENSP00000407161.1:p.Asn56Ser | |
| ENST00000428883.5:c.167A>G | ENSP00000402712.1:p.Asn56Ser | |
| ENST00000429187.5:c.167A>G | ENSP00000392991.1:p.Asn56Ser | |
| ENST00000430720.5:c.167A>G | ENSP00000396958.1:p.Asn56Ser | |
| ENST00000440945.5:c.167A>G | ENSP00000410297.1:p.Asn56Ser | |
| ENST00000456491.5:c.130+37A>G | ENSP00000413612.1:n.130+37A>G | |
| ENST00000463554.5:n.319A>G | ||
| ENST00000629305.2:c.167A>G | ENSP00000487548.1:p.Asn56Ser | |
| NM_001103146.1:c.167A>G | NP_001096616.1:p.Asn56Ser | |
| NM_001103147.1:c.167A>G | NP_001096617.1:p.Asn56Ser | |
| NM_001103148.1:c.167A>G | NP_001096618.1:p.Asn56Ser | |
| NM_015575.3:c.167A>G | NP_056390.2:p.Asn56Ser | |
| NR_103492.1:n.280A>G | ||
| NM_001103146.3:c.167A>G MANE Select | NP_001096616.1:p.Asn56Ser | |
| NM_001103147.2:c.167A>G | NP_001096617.1:p.Asn56Ser | |
| NM_001103148.2:c.167A>G | NP_001096618.1:p.Asn56Ser | |
| NM_015575.4:c.167A>G | NP_056390.2:p.Asn56Ser |