Linked Data
ClinVar Variation Id:
2821
dbSNP Id:
rs28940272
ExAC:
8:100832259 A / G
gnomAD v2:
8-100832259-A-G
gnomAD v3:
8-99820031-A-G
gnomAD v4:
8-99820031-A-G
PubMed:
PMID:15141358
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.99820031A>G , CM000670.2:g.99820031A>G | GRCh38 |
| NC_000008.10:g.100832259A>G , CM000670.1:g.100832259A>G | GRCh37 |
| NC_000008.9:g.100901435A>G | NCBI36 |
| NG_007098.2:g.811766A>G , LRG_351:g.811766A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000682153.1:c.8978A>G | ENSP00000507923.1:p.Asn2993Ser | |
| ENST00000682358.1:n.9048A>G | ||
| ENST00000683334.1:c.*4660A>G | ENSP00000507369.1:n.*4660A>G | |
| ENST00000357162.7:c.8903A>G MANE Select | ENSP00000349685.2:p.Asn2968Ser | |
| ENST00000358544.7:c.8978A>G MANE Plus Clinical | ENSP00000351346.2:p.Asn2993Ser | |
| ENST00000357162.6:c.8903A>G | ENSP00000349685.2:p.Asn2968Ser | |
| ENST00000358544.6:c.8978A>G | ENSP00000351346.2:p.Asn2993Ser | |
| NM_017890.4:c.8978A>G , LRG_351t1:c.8978A>G | NP_060360.3:p.Asn2993Ser | |
| NM_152564.4:c.8903A>G , LRG_351t2:c.8903A>G | NP_689777.3:p.Asn2968Ser | |
| XM_005250800.2:c.8978A>G | XP_005250857.1:p.Asn2993Ser | |
| XM_005250801.3:c.8978A>G | XP_005250858.1:p.Asn2993Ser | |
| XM_011516848.1:c.8975A>G | XP_011515150.1:p.Asn2992Ser | |
| XM_011516849.1:c.8900A>G | XP_011515151.1:p.Asn2967Ser | |
| XM_011516850.1:c.8600A>G | XP_011515152.1:p.Asn2867Ser | |
| XM_011516851.1:c.5864A>G | XP_011515153.1:p.Asn1955Ser | |
| XM_011516852.1:c.5864A>G | XP_011515154.1:p.Asn1955Ser | |
| XM_011516854.1:c.4757A>G | XP_011515156.1:p.Asn1586Ser | |
| XM_005250800.3:c.8978A>G | XP_005250857.1:p.Asn2993Ser | |
| XM_005250801.5:c.8978A>G | XP_005250858.1:p.Asn2993Ser | |
| XM_011516848.2:c.8975A>G | XP_011515150.1:p.Asn2992Ser | |
| XM_011516849.2:c.8900A>G | XP_011515151.1:p.Asn2967Ser | |
| XM_011516850.2:c.8600A>G | XP_011515152.1:p.Asn2867Ser | |
| XM_011516851.2:c.5864A>G | XP_011515153.1:p.Asn1955Ser | |
| XM_011516852.2:c.5864A>G | XP_011515154.1:p.Asn1955Ser | |
| XM_011516854.2:c.4757A>G | XP_011515156.1:p.Asn1586Ser | |
| XM_017013109.1:c.8783A>G | XP_016868598.1:p.Asn2928Ser | |
| XM_017013111.1:c.5864A>G | XP_016868600.1:p.Asn1955Ser | |
| XM_017013112.1:c.4535A>G | XP_016868601.1:p.Asn1512Ser | |
| XM_024447074.1:c.7763A>G | XP_024302842.1:p.Asn2588Ser | |
| NM_017890.5:c.8978A>G MANE Plus Clinical | NP_060360.3:p.Asn2993Ser | |
| NM_152564.5:c.8903A>G MANE Select | NP_689777.3:p.Asn2968Ser |