Linked Data
ClinVar Variation Id:
516592
dbSNP Id:
rs2292754
ExAC:
17:40725379 A / T
gnomAD v2:
17-40725379-A-T
gnomAD v3:
17-42573361-A-T
gnomAD v4:
17-42573361-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42573361A>T , CM000679.2:g.42573361A>T | GRCh38 |
| NC_000017.10:g.40725379A>T , CM000679.1:g.40725379A>T | GRCh37 |
| NC_000017.9:g.37978905A>T | NCBI36 |
| NG_029442.1:g.11302A>T | |
| NG_031960.1:g.9471T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000393795.8:c.487T>A MANE Select | ENSP00000377384.2:p.Tyr163Asn | |
| ENST00000253789.9:c.451T>A | ENSP00000253789.4:p.Tyr151Asn | |
| ENST00000393795.7:c.487T>A | ENSP00000377384.2:p.Tyr163Asn | |
| ENST00000586337.5:c.*251T>A | ENSP00000466031.1:n.*251T>A | |
| ENST00000587209.5:c.298T>A | ENSP00000468188.1:p.Tyr100Asn | |
| ENST00000588544.5:c.*362T>A | ENSP00000465409.1:n.*362T>A | |
| ENST00000589505.5:n.1071T>A | ||
| ENST00000590760.5:c.112T>A | ENSP00000466381.1:p.Tyr38Asn | |
| ENST00000590931.1:c.*416T>A | ENSP00000467952.1:n.*416T>A | |
| NM_001256014.1:c.298T>A | NP_001242943.1:p.Tyr100Asn | |
| NM_001256015.1:c.250T>A | NP_001242944.1:p.Tyr84Asn | |
| NM_001256016.1:c.250T>A | NP_001242945.1:p.Tyr84Asn | |
| NM_013290.6:c.451T>A | NP_037422.2:p.Tyr151Asn | |
| NM_016556.3:c.487T>A | NP_057640.1:p.Tyr163Asn | |
| NR_045669.1:n.912T>A | ||
| NR_045670.1:n.535T>A | ||
| NR_045671.1:n.511T>A | ||
| NM_016556.4:c.487T>A MANE Select | NP_057640.1:p.Tyr163Asn | |
| NM_001256014.2:c.298T>A | NP_001242943.1:p.Tyr100Asn | |
| NM_001256015.2:c.250T>A | NP_001242944.1:p.Tyr84Asn | |
| NM_001256016.2:c.250T>A | NP_001242945.1:p.Tyr84Asn | |
| NM_013290.7:c.451T>A | NP_037422.2:p.Tyr151Asn | |
| NR_045671.2:n.524T>A |