Linked Data
ClinVar Variation Id:
2179222
ClinVar RCV Id:
RCV002591820
dbSNP Id:
rs758798866
ExAC:
2:71351445 T / C
gnomAD v4:
2-71124315-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.71124315T>C , CM000664.2:g.71124315T>C | GRCh38 |
| NC_000002.11:g.71351445T>C , CM000664.1:g.71351445T>C | GRCh37 |
| NC_000002.10:g.71204953T>C | NCBI36 |
| NG_008977.1:g.10950A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000244217.6:c.269A>G MANE Select | ENSP00000244217.5:p.Asn90Ser | |
| ENST00000244217.5:c.269A>G | ENSP00000244217.5:p.Asn90Ser | |
| ENST00000413592.5:c.84+53A>G | ENSP00000391140.1:n.84+53A>G | |
| ENST00000486135.1:c.-17A>G | ENSP00000441569.1:n.-17A>G | |
| ENST00000494660.6:c.-17A>G | ENSP00000437361.1:n.-17A>G | |
| NM_032601.3:c.269A>G | NP_115990.3:p.Asn90Ser | |
| XM_005264613.2:c.216+53A>G | XP_005264670.1:n.216+53A>G | |
| XR_939729.1:n.338A>G | ||
| XR_939729.2:n.338A>G | ||
| NM_032601.4:c.269A>G MANE Select | NP_115990.3:p.Asn90Ser |