Linked Data
ClinVar Variation Id:
1762463
ClinVar RCV Id:
RCV002427959
dbSNP Id:
rs775464463
gnomAD v2:
18-29104540-A-T
gnomAD v4:
18-31524577-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.31524577A>T , CM000680.2:g.31524577A>T | GRCh38 |
| NC_000018.9:g.29104540A>T , CM000680.1:g.29104540A>T | GRCh37 |
| NC_000018.8:g.27358538A>T | NCBI36 |
| NG_007072.3:g.31336A>T , LRG_397:g.31336A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682087.2:n.651A>T | ||
| ENST00000683614.2:n.651A>T | ||
| ENST00000682087.1:c.651A>T | ||
| ENST00000683614.1:c.651A>T | ||
| ENST00000261590.13:c.820A>T MANE Select | ENSP00000261590.8:p.Asn274Tyr | |
| ENST00000261590.12:c.820A>T | ENSP00000261590.8:p.Asn274Tyr | |
| NM_001943.3:c.820A>T , LRG_397t1:c.820A>T | NP_001934.2:p.Asn274Tyr | |
| NM_001943.4:c.820A>T | NP_001934.2:p.Asn274Tyr | |
| XM_024451095.1:c.286A>T | XP_024306863.1:p.Asn96Tyr | |
| NM_001943.5:c.820A>T MANE Select | NP_001934.2:p.Asn274Tyr |