Linked Data
ClinVar Variation Id:
502437
dbSNP Id:
rs758725993
ExAC:
15:48744788 T / A
gnomAD v2:
15-48744788-T-A
gnomAD v3:
15-48452591-T-A
gnomAD v4:
15-48452591-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48452591T>A , CM000677.2:g.48452591T>A | GRCh38 |
| NC_000015.9:g.48744788T>A , CM000677.1:g.48744788T>A | GRCh37 |
| NC_000015.8:g.46532080T>A | NCBI36 |
| NG_008805.2:g.198198A>T , LRG_778:g.198198A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.5516A>T | ENSP00000453958.2:p.Tyr1839Phe | |
| ENST00000674301.2:c.5516A>T | ENSP00000501333.2:p.Tyr1839Phe | |
| ENST00000684448.1:n.4190A>T | ||
| ENST00000316623.10:c.5516A>T MANE Select | ENSP00000325527.5:p.Tyr1839Phe | |
| ENST00000674301.1:c.515A>T | ENSP00000501333.1:p.Tyr172Phe | |
| ENST00000316623.9:c.5516A>T | ENSP00000325527.5:p.Tyr1839Phe | |
| ENST00000537463.6:c.*1279A>T | ENSP00000440294.2:n.*1279A>T | |
| ENST00000559133.5:c.823A>T | ||
| NM_000138.4:c.5516A>T , LRG_778t1:c.5516A>T | NP_000129.3:p.Tyr1839Phe | |
| NM_000138.5:c.5516A>T MANE Select | NP_000129.3:p.Tyr1839Phe |