Linked Data
ClinVar Variation Id:
2089939
ClinVar RCV Id:
RCV003005729
dbSNP Id:
rs777579636
ExAC:
3:53157833 G / T
gnomAD v2:
3-53157833-G-T
gnomAD v4:
3-53123817-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.53123817G>T , CM000665.2:g.53123817G>T | GRCh38 |
| NC_000003.11:g.53157833G>T , CM000665.1:g.53157833G>T | GRCh37 |
| NC_000003.10:g.53132873G>T | NCBI36 |
| NG_009203.1:g.11638C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296292.8:c.173C>A MANE Select | ENSP00000296292.3:p.Thr58Asn | |
| ENST00000296292.7:c.173C>A | ENSP00000296292.3:p.Thr58Asn | |
| ENST00000394738.7:c.150-1254C>A | ENSP00000378223.3:n.150-1254C>A | |
| ENST00000467048.1:c.173C>A | ENSP00000420325.1:p.Thr58Asn | |
| NM_052859.3:c.173C>A | NP_443091.1:p.Thr58Asn | |
| XM_005265537.3:c.173C>A | XP_005265594.1:p.Thr58Asn | |
| XM_006713384.2:c.173C>A | XP_006713447.1:p.Thr58Asn | |
| XM_011534214.1:c.173C>A | XP_011532516.1:p.Thr58Asn | |
| XM_011534215.1:c.173C>A | XP_011532517.1:p.Thr58Asn | |
| XR_940507.1:n.232C>A | ||
| XM_005265537.4:c.173C>A | XP_005265594.1:p.Thr58Asn | |
| XM_006713384.3:c.173C>A | XP_006713447.1:p.Thr58Asn | |
| XM_011534214.2:c.173C>A | XP_011532516.1:p.Thr58Asn | |
| XM_011534215.3:c.173C>A | XP_011532517.1:p.Thr58Asn | |
| XM_011534216.3:c.-668C>A | XP_011532518.1:n.-668C>A | |
| XM_017007460.1:c.173C>A | XP_016862949.1:p.Thr58Asn | |
| XM_017007461.2:c.-668C>A | XP_016862950.1:n.-668C>A | |
| XR_001740360.2:n.239C>A | ||
| NM_052859.4:c.173C>A MANE Select | NP_443091.1:p.Thr58Asn |