Linked Data
ClinVar Variation Id:
418202
dbSNP Id:
rs146469379
ExAC:
15:48707757 G / A
gnomAD v2:
15-48707757-G-A
gnomAD v3:
15-48415560-G-A
gnomAD v4:
15-48415560-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48415560G>A , CM000677.2:g.48415560G>A | GRCh38 |
| NC_000015.9:g.48707757G>A , CM000677.1:g.48707757G>A | GRCh37 |
| NC_000015.8:g.46495049G>A | NCBI36 |
| NG_008805.2:g.235229C>T , LRG_778:g.235229C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000559133.6:c.*835C>T | ENSP00000453958.2:n.*835C>T | |
| ENST00000674301.2:c.*1540C>T | ENSP00000501333.2:n.*1540C>T | |
| ENST00000682158.1:n.1408C>T | ||
| ENST00000682170.1:n.2208C>T | ||
| ENST00000682767.1:n.1324C>T | ||
| ENST00000316623.10:c.8027C>T MANE Select | ENSP00000325527.5:p.Pro2676Leu | |
| ENST00000674301.1:c.3193C>T | ENSP00000501333.1:n.3193C>T | |
| ENST00000316623.9:c.8027C>T | ENSP00000325527.5:p.Pro2676Leu | |
| ENST00000559133.5:c.3396C>T | ||
| ENST00000561429.1:n.282C>T | ||
| NM_000138.4:c.8027C>T , LRG_778t1:c.8027C>T | NP_000129.3:p.Pro2676Leu | |
| NM_000138.5:c.8027C>T MANE Select | NP_000129.3:p.Pro2676Leu |