Linked Data
ClinVar Variation Id:
1479645
ClinVar RCV Id:
RCV002009853
dbSNP Id:
rs767518257
gnomAD v2:
3-50230811-A-G
gnomAD v4:
3-50193378-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.50193378A>G , CM000665.2:g.50193378A>G | GRCh38 |
| NC_000003.11:g.50230811A>G , CM000665.1:g.50230811A>G | GRCh37 |
| NC_000003.10:g.50205815A>G | NCBI36 |
| NG_009831.1:g.6769A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000232461.8:c.263A>G MANE Select | ENSP00000232461.3:p.Asn88Ser | |
| ENST00000232461.7:c.263A>G | ENSP00000232461.3:p.Asn88Ser | |
| ENST00000433068.5:c.263A>G | ENSP00000387555.1:p.Asn88Ser | |
| ENST00000440836.1:c.119A>G | ENSP00000403537.1:p.Asn40Ser | |
| NM_000172.3:c.263A>G | NP_000163.2:p.Asn88Ser | |
| NM_144499.2:c.263A>G | NP_653082.1:p.Asn88Ser | |
| XM_011533595.1:c.119A>G | XP_011531897.1:p.Asn40Ser | |
| XM_011533596.1:c.119A>G | XP_011531898.1:p.Asn40Ser | |
| XR_940416.1:n.543A>G | ||
| NM_000172.4:c.263A>G | NP_000163.2:p.Asn88Ser | |
| NM_144499.3:c.263A>G MANE Select | NP_653082.1:p.Asn88Ser |