Linked Data
ClinVar Variation Id:
875547
ClinVar RCV Id:
RCV001099492
dbSNP Id:
rs1220156417
gnomAD v2:
1-155265244-G-T
gnomAD v4:
1-155295453-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.155295453G>T , CM000663.2:g.155295453G>T | GRCh38 |
| NC_000001.10:g.155265244G>T , CM000663.1:g.155265244G>T | GRCh37 |
| NC_000001.9:g.153531868G>T | NCBI36 |
| NG_011677.1:g.10982C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342741.6:c.491C>A MANE Select | ENSP00000339933.4:p.Thr164Asn | |
| ENST00000434082.3:c.299C>A | ENSP00000398037.3:p.Thr100Asn | |
| ENST00000342741.4:c.491C>A | ENSP00000339933.4:p.Thr164Asn | |
| ENST00000392414.7:c.398C>A | ENSP00000376214.3:p.Thr133Asn | |
| ENST00000434082.2:c.396C>A | ENSP00000398037.2:n.396C>A | |
| NM_000298.5:c.491C>A | NP_000289.1:p.Thr164Asn | |
| NM_181871.3:c.398C>A | NP_870986.1:p.Thr133Asn | |
| XM_005245266.3:c.650C>A | XP_005245323.1:p.Thr217Asn | |
| XM_006711386.2:c.299C>A | XP_006711449.1:p.Thr100Asn | |
| XM_011509639.1:c.650C>A | XP_011507941.1:p.Thr217Asn | |
| XM_011509640.1:c.299C>A | XP_011507942.1:p.Thr100Asn | |
| NM_000298.6:c.491C>A MANE Select | NP_000289.1:p.Thr164Asn | |
| XM_006711386.4:c.299C>A | XP_006711449.1:p.Thr100Asn | |
| XM_011509640.3:c.299C>A | XP_011507942.1:p.Thr100Asn | |
| XM_017001493.1:c.491C>A | XP_016856982.1:p.Thr164Asn | |
| NM_181871.4:c.398C>A | NP_870986.1:p.Thr133Asn |