Linked Data
ClinVar Variation Id:
1361304
ClinVar RCV Id:
RCV001907463
dbSNP Id:
rs761353511
ExAC:
9:130581920 G / A
gnomAD v2:
9-130581920-G-A
gnomAD v4:
9-127819641-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.127819641G>A , CM000671.2:g.127819641G>A | GRCh38 |
| NC_000009.11:g.130581920G>A , CM000671.1:g.130581920G>A | GRCh37 |
| NC_000009.10:g.129621741G>A | NCBI36 |
| NG_009551.1:g.40128C>T , LRG_589:g.40128C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000480266.6:c.746C>T | ENSP00000479015.1:p.Ser249Leu | |
| ENST00000373203.9:c.1292C>T MANE Select | ENSP00000362299.4:p.Ser431Leu | |
| ENST00000344849.4:c.1292C>T | ENSP00000341917.3:p.Ser431Leu | |
| ENST00000373203.8:c.1292C>T | ENSP00000362299.4:p.Ser431Leu | |
| ENST00000480266.5:c.746C>T | ENSP00000479015.1:p.Ser249Leu | |
| ENST00000486329.1:n.260C>T | ||
| NM_000118.3:c.1292C>T , LRG_589t1:c.1292C>T | NP_000109.1:p.Ser431Leu | |
| NM_001114753.2:c.1292C>T , LRG_589t2:c.1292C>T | NP_001108225.1:p.Ser431Leu | |
| NM_001278138.1:c.746C>T | NP_001265067.1:p.Ser249Leu | |
| NR_136302.1:n.1568+930G>A | ||
| NM_001114753.3:c.1292C>T MANE Select | NP_001108225.1:p.Ser431Leu | |
| NM_001278138.2:c.746C>T | NP_001265067.1:p.Ser249Leu |