Linked Data
ClinVar Variation Id:
2531852
ClinVar RCV Id:
RCV004303918
dbSNP Id:
rs1242066829
gnomAD v2:
11-24927538-A-G
gnomAD v3:
11-24905992-A-G
gnomAD v4:
11-24905992-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.24905992A>G , CM000673.2:g.24905992A>G | GRCh38 |
| NC_000011.9:g.24927538A>G , CM000673.1:g.24927538A>G | GRCh37 |
| NC_000011.8:g.24884114A>G | NCBI36 |
| NG_030588.1:g.414023A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000336930.11:c.398A>G MANE Select | ENSP00000336817.6:p.Asn133Ser | |
| ENST00000336930.10:c.398A>G | ENSP00000336817.6:p.Asn133Ser | |
| ENST00000529015.5:c.397-70599A>G | ENSP00000437032.1:n.397-70599A>G | |
| ENST00000533227.5:c.140A>G | ENSP00000432952.1:p.Asn47Ser | |
| ENST00000620308.1:c.140A>G | ENSP00000480441.1:p.Asn47Ser | |
| NM_001009909.3:c.398A>G | NP_001009909.2:p.Asn133Ser | |
| NM_001252008.1:c.140A>G | NP_001238937.1:p.Asn47Ser | |
| NM_001252010.1:c.397-70599A>G | NP_001238939.1:n.397-70599A>G | |
| XM_011520054.1:c.776A>G | XP_011518356.1:p.Asn259Ser | |
| XR_930864.1:n.1325A>G | ||
| XM_017017648.2:c.776A>G | XP_016873137.2:p.Asn259Ser | |
| XM_024448468.1:c.776A>G | XP_024304236.1:p.Asn259Ser | |
| XR_930864.3:n.1325A>G | ||
| NM_001009909.4:c.398A>G MANE Select | NP_001009909.2:p.Asn133Ser | |
| NM_001252008.2:c.140A>G | NP_001238937.1:p.Asn47Ser | |
| NM_001252010.2:c.397-70599A>G | NP_001238939.1:n.397-70599A>G |