Linked Data
ClinVar Variation Id:
2903960
ClinVar RCV Id:
RCV003634096
dbSNP Id:
rs1211976677
gnomAD v4:
1-114684285-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.114684285G>A , CM000663.2:g.114684285G>A | GRCh38 |
| NC_000001.10:g.115226906G>A , CM000663.1:g.115226906G>A | GRCh37 |
| NC_000001.9:g.115028429G>A | NCBI36 |
| NG_008012.1:g.16271C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000369538.4:c.449C>T | ENSP00000358551.4:p.Ser150Leu | |
| ENST00000520113.7:c.461C>T MANE Select | ENSP00000430075.3:p.Ser154Leu | |
| ENST00000637080.1:c.464C>T | ENSP00000489753.1:p.Ser155Leu | |
| ENST00000639077.1:n.126C>T | ||
| ENST00000369538.3:c.548C>T | ENSP00000358551.3:p.Ser183Leu | |
| ENST00000485564.3:n.335C>T | ||
| ENST00000520113.6:c.560C>T | ENSP00000430075.2:p.Ser187Leu | |
| NM_000036.2:c.560C>T | NP_000027.2:p.Ser187Leu | |
| NM_001172626.1:c.548C>T | NP_001166097.1:p.Ser183Leu | |
| NM_000036.3:c.461C>T MANE Select | NP_000027.3:p.Ser154Leu | |
| NM_001172626.2:c.449C>T | NP_001166097.2:p.Ser150Leu |