Linked Data
ClinVar Variation Id:
411983
ClinVar RCV Id:
RCV000461022
dbSNP Id:
rs1060503566
gnomAD v2:
3-10191527-A-T
gnomAD v4:
3-10149843-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.10149843A>T , CM000665.2:g.10149843A>T | GRCh38 |
| NC_000003.11:g.10191527A>T , CM000665.1:g.10191527A>T | GRCh37 |
| NC_000003.10:g.10166527A>T | NCBI36 |
| NG_008212.3:g.13209A>T , LRG_322:g.13209A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000696142.1:c.*197A>T | ENSP00000512434.1:n.*197A>T | |
| ENST00000696143.1:c.656A>T | ENSP00000512435.1:n.656A>T | |
| ENST00000696153.1:c.631A>T | ENSP00000512444.1:p.Asn211Tyr | |
| ENST00000256474.3:c.520A>T MANE Select | ENSP00000256474.3:p.Asn174Tyr | |
| ENST00000256474.2:c.520A>T | ENSP00000256474.2:p.Asn174Tyr | |
| ENST00000345392.2:c.397A>T | ENSP00000344757.2:p.Asn133Tyr | |
| ENST00000477538.1:n.656A>T | ||
| NM_000551.3:c.520A>T , LRG_322t1:c.520A>T | NP_000542.1:p.Asn174Tyr | |
| NM_198156.2:c.397A>T | NP_937799.1:p.Asn133Tyr | |
| NM_001354723.1:c.*74A>T | NP_001341652.1:n.*74A>T | |
| NM_000551.4:c.520A>T MANE Select | NP_000542.1:p.Asn174Tyr | |
| NM_001354723.2:c.*74A>T | NP_001341652.1:n.*74A>T | |
| NM_198156.3:c.397A>T | NP_937799.1:p.Asn133Tyr |