Linked Data
ClinVar Variation Id:
3097432
ClinVar RCV Id:
RCV004387266
dbSNP Id:
rs752480853
ExAC:
1:24175205 T / C
gnomAD v2:
1-24175205-T-C
gnomAD v3:
1-23848715-T-C
gnomAD v4:
1-23848715-T-C
COSMIC:
COSM5639849
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.23848715T>C , CM000663.2:g.23848715T>C | GRCh38 |
| NC_000001.10:g.24175205T>C , CM000663.1:g.24175205T>C | GRCh37 |
| NC_000001.9:g.24047792T>C | NCBI36 |
| NG_013346.1:g.24655A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374479.4:c.1094A>G MANE Select | ENSP00000363603.3:p.Asn365Ser | |
| ENST00000374479.3:c.1094A>G | ENSP00000363603.3:p.Asn365Ser | |
| NM_000147.4:c.1094A>G | NP_000138.2:p.Asn365Ser | |
| XM_005245821.1:c.719A>G | XP_005245878.1:p.Asn240Ser | |
| XM_011541167.1:c.461A>G | XP_011539469.1:p.Asn154Ser | |
| XM_005245821.3:c.719A>G | XP_005245878.1:p.Asn240Ser | |
| XM_011541167.3:c.461A>G | XP_011539469.1:p.Asn154Ser | |
| XM_017000905.2:c.791A>G | XP_016856394.1:p.Asn264Ser | |
| NM_000147.5:c.1094A>G MANE Select | NP_000138.2:p.Asn365Ser | |
| NR_174379.1:n.1272A>G | ||
| NR_174380.1:n.1321A>G | ||
| NR_174381.1:n.1160A>G | ||
| NR_174382.1:n.1557A>G |