Linked Data
ClinVar Variation Id:
520836
ClinVar RCV Id:
RCV000624539
dbSNP Id:
rs1224900173
gnomAD v2:
4-148441085-C-T
gnomAD v4:
4-147519933-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.147519933C>T , CM000666.2:g.147519933C>T | GRCh38 |
| NC_000004.11:g.148441085C>T , CM000666.1:g.148441085C>T | GRCh37 |
| NC_000004.10:g.148660535C>T | NCBI36 |
| NG_013343.1:g.44017C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000324300.10:c.503C>T | ENSP00000315011.5:p.Ser168Leu | |
| ENST00000648866.1:c.-173C>T | ENSP00000496976.1:n.-173C>T | |
| ENST00000651419.1:c.503C>T MANE Select | ENSP00000498969.1:p.Ser168Leu | |
| ENST00000324300.9:c.503C>T | ENSP00000315011.5:p.Ser168Leu | |
| ENST00000358556.8:c.421-15944C>T | ENSP00000351359.4:n.421-15944C>T | |
| ENST00000506066.1:c.421-15944C>T | ENSP00000425281.1:n.421-15944C>T | |
| ENST00000510697.5:c.503C>T | ENSP00000427259.1:p.Ser168Leu | |
| ENST00000511804.5:c.-173C>T | ENSP00000425354.1:n.-173C>T | |
| ENST00000514245.1:n.269-12573C>T | ||
| NM_001166055.1:c.421-15944C>T | NP_001159527.1:n.421-15944C>T | |
| NM_001256283.1:c.-173C>T | NP_001243212.1:n.-173C>T | |
| NM_001957.3:c.503C>T | NP_001948.1:p.Ser168Leu | |
| NR_045958.1:n.1033C>T | ||
| NM_001354797.1:c.503C>T | NP_001341726.1:p.Ser168Leu | |
| NR_148963.1:n.543C>T | ||
| NR_148964.1:n.543C>T | ||
| NM_001957.4:c.503C>T MANE Select | NP_001948.1:p.Ser168Leu | |
| NM_001354797.2:c.503C>T | NP_001341726.1:p.Ser168Leu | |
| NR_045958.2:n.853C>T | ||
| NR_148963.2:n.363C>T | ||
| NR_148964.2:n.363C>T | ||
| NM_001166055.2:c.421-15944C>T | NP_001159527.1:n.421-15944C>T |