Linked Data
ClinVar Variation Id:
333638
dbSNP Id:
rs112862820
ExAC:
2:203329541 A / G
gnomAD v2:
2-203329541-A-G
gnomAD v3:
2-202464818-A-G
gnomAD v4:
2-202464818-A-G
ERepo:
CA2061034/MONDO:0015924/125
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.202464818A>G , CM000664.2:g.202464818A>G | GRCh38 |
| NC_000002.11:g.203329541A>G , CM000664.1:g.203329541A>G | GRCh37 |
| NC_000002.10:g.203037786A>G | NCBI36 |
| NG_009363.1:g.93492A>G , LRG_712:g.93492A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374580.10:c.86A>G MANE Select | ENSP00000363708.4:p.Asn29Ser | |
| ENST00000638587.1:c.11A>G | ENSP00000491062.1:p.Asn4Ser | |
| ENST00000374574.2:c.86A>G | ENSP00000363702.2:p.Asn29Ser | |
| ENST00000374580.8:c.86A>G | ENSP00000363708.4:p.Asn29Ser | |
| NM_001204.6:c.86A>G , LRG_712t1:c.86A>G | NP_001195.2:p.Asn29Ser | |
| XM_011511687.1:c.86A>G | XP_011509989.1:p.Asn29Ser | |
| XM_011511688.1:c.86A>G | XP_011509990.1:p.Asn29Ser | |
| NM_001204.7:c.86A>G MANE Select | NP_001195.2:p.Asn29Ser |