Linked Data
ClinVar Variation Id:
2446087
ClinVar RCV Id:
RCV003156441
dbSNP Id:
rs1248339289
gnomAD v3:
11-17387244-A-T
gnomAD v4:
11-17387244-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17387244A>T , CM000673.2:g.17387244A>T | GRCh38 |
| NC_000011.9:g.17408791A>T , CM000673.1:g.17408791A>T | GRCh37 |
| NC_000011.8:g.17365367A>T | NCBI36 |
| NG_012446.1:g.6416T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682350.1:c.587T>A | ENSP00000508090.1:p.Ile196Asn | |
| ENST00000682764.1:c.587T>A | ENSP00000506780.1:p.Ile196Asn | |
| ENST00000339994.5:c.848T>A MANE Select | ENSP00000345708.4:p.Ile283Asn | |
| ENST00000339994.4:c.848T>A | ENSP00000345708.4:p.Ile283Asn | |
| ENST00000528731.1:c.587T>A | ENSP00000434755.1:p.Ile196Asn | |
| NM_000525.3:c.848T>A | NP_000516.3:p.Ile283Asn | |
| NM_001166290.1:c.587T>A | NP_001159762.1:p.Ile196Asn | |
| XM_006718226.2:c.587T>A | XP_006718289.1:p.Ile196Asn | |
| XR_930867.1:n.1006T>A | ||
| XM_006718226.3:c.587T>A | XP_006718289.1:p.Ile196Asn | |
| XM_017017680.1:c.587T>A | XP_016873169.1:p.Ile196Asn | |
| NM_001166290.2:c.587T>A | NP_001159762.1:p.Ile196Asn | |
| NM_001377296.1:c.587T>A | NP_001364225.1:p.Ile196Asn | |
| NM_001377297.1:c.587T>A | NP_001364226.1:p.Ile196Asn | |
| NM_000525.4:c.848T>A MANE Select | NP_000516.3:p.Ile283Asn |