Linked Data
ClinVar Variation Id:
3160221
ClinVar RCV Id:
RCV004453123
dbSNP Id:
rs1481670235
gnomAD v2:
1-67889946-G-A
gnomAD v4:
1-67424263-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.67424263G>A , CM000663.2:g.67424263G>A | GRCh38 |
| NC_000001.10:g.67889946G>A , CM000663.1:g.67889946G>A | GRCh37 |
| NC_000001.9:g.67662534G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361219.11:c.710C>T MANE Select | ENSP00000354591.6:p.Ser237Leu | |
| ENST00000361219.10:c.710C>T | ENSP00000354591.6:p.Ser237Leu | |
| ENST00000370990.5:c.737C>T | ENSP00000360029.5:p.Ser246Leu | |
| ENST00000370994.8:c.692C>T | ENSP00000360033.4:p.Ser231Leu | |
| ENST00000370995.6:c.755C>T | ENSP00000360034.2:p.Ser252Leu | |
| ENST00000484880.1:n.143C>T | ||
| ENST00000493607.1:n.152C>T | ||
| NM_001018067.1:c.755C>T | NP_001018077.1:p.Ser252Leu | |
| NM_001018068.1:c.737C>T | NP_001018078.1:p.Ser246Leu | |
| NM_001018069.1:c.710C>T | NP_001018079.1:p.Ser237Leu | |
| NM_015640.3:c.692C>T | NP_056455.3:p.Ser231Leu | |
| NM_001018067.2:c.755C>T | NP_001018077.1:p.Ser252Leu | |
| NM_001018068.2:c.737C>T | NP_001018078.1:p.Ser246Leu | |
| NM_001018069.2:c.710C>T MANE Select | NP_001018079.1:p.Ser237Leu | |
| NM_015640.4:c.692C>T | NP_056455.3:p.Ser231Leu |