Linked Data
ClinVar Variation Id:
860321
ClinVar RCV Id:
RCV001066604
dbSNP Id:
rs1156669922
gnomAD v3:
2-39022860-C-T
gnomAD v4:
2-39022860-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.39022860C>T , CM000664.2:g.39022860C>T | GRCh38 |
| NC_000002.11:g.39250001C>T , CM000664.1:g.39250001C>T | GRCh37 |
| NC_000002.10:g.39103505C>T | NCBI36 |
| NG_007530.1:g.102604G>A , LRG_754:g.102604G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000472480.2:n.1448G>A | ||
| ENST00000685279.1:c.335G>A | ENSP00000509424.1:p.Ser112Asn | |
| ENST00000688043.1:n.1789G>A | ||
| ENST00000689668.1:n.1575G>A | ||
| ENST00000690876.1:c.1457G>A | ENSP00000508955.1:p.Ser486Asn | |
| ENST00000691229.1:c.1457G>A | ENSP00000510437.1:p.Ser486Asn | |
| ENST00000692089.1:c.1457G>A | ENSP00000508626.1:p.Ser486Asn | |
| ENST00000692620.1:c.335G>A | ENSP00000509311.1:p.Ser112Asn | |
| ENST00000402219.8:c.1568G>A MANE Select | ENSP00000384675.2:p.Ser523Asn | |
| ENST00000395038.6:c.1568G>A | ENSP00000378479.2:p.Ser523Asn | |
| ENST00000402219.6:c.1568G>A | ENSP00000384675.2:p.Ser523Asn | |
| ENST00000426016.5:c.1568G>A | ENSP00000387784.1:p.Ser523Asn | |
| NM_005633.3:c.1568G>A , LRG_754t1:c.1568G>A | NP_005624.2:p.Ser523Asn | |
| XM_005264515.3:c.1568G>A | XP_005264572.1:p.Ser523Asn | |
| XM_011533060.1:c.1661G>A | XP_011531362.1:p.Ser554Asn | |
| XM_011533061.1:c.1661G>A | XP_011531363.1:p.Ser554Asn | |
| XM_011533062.1:c.1547G>A | XP_011531364.1:p.Ser516Asn | |
| XM_011533063.1:c.1544G>A | XP_011531365.1:p.Ser515Asn | |
| XM_011533064.1:c.1397G>A | XP_011531366.1:p.Ser466Asn | |
| XM_011533065.1:c.1661G>A | XP_011531367.1:p.Ser554Asn | |
| XM_011533066.1:c.503G>A | XP_011531368.1:p.Ser168Asn | |
| XM_005264515.4:c.1568G>A | XP_005264572.1:p.Ser523Asn | |
| XM_011533062.2:c.1547G>A | XP_011531364.1:p.Ser516Asn | |
| XM_011533064.2:c.1397G>A | XP_011531366.1:p.Ser466Asn | |
| NM_001382394.1:c.1547G>A | NP_001369323.1:p.Ser516Asn | |
| NM_001382395.1:c.1568G>A | NP_001369324.1:p.Ser523Asn | |
| NM_005633.4:c.1568G>A MANE Select | NP_005624.2:p.Ser523Asn |