Linked Data
ClinVar Variation Id:
4003
ClinVar RCV Id:
RCV000004210
dbSNP Id:
rs137852937
ExAC:
1:19203992 G / A
gnomAD v2:
1-19203992-G-A
gnomAD v3:
1-18877498-G-A
gnomAD v4:
1-18877498-G-A
PubMed:
PMID:9700195
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.18877498G>A , CM000663.2:g.18877498G>A | GRCh38 |
| NC_000001.10:g.19203992G>A , CM000663.1:g.19203992G>A | GRCh37 |
| NC_000001.9:g.19076579G>A | NCBI36 |
| NG_012283.1:g.30302C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375341.8:c.1055C>T MANE Select | ENSP00000364490.3:p.Ser352Leu | |
| ENST00000290597.9:c.1055C>T | ENSP00000290597.5:p.Ser352Leu | |
| ENST00000375341.7:c.1055C>T | ENSP00000364490.3:p.Ser352Leu | |
| ENST00000494072.3:c.2107C>T | ||
| ENST00000538309.5:c.875C>T | ENSP00000442988.1:p.Ser292Leu | |
| ENST00000538839.5:c.1055C>T | ENSP00000446071.1:p.Ser352Leu | |
| NM_001161504.1:c.875C>T | NP_001154976.1:p.Ser292Leu | |
| NM_003748.3:c.1055C>T | NP_003739.2:p.Ser352Leu | |
| NM_170726.2:c.1055C>T | NP_733844.1:p.Ser352Leu | |
| XM_011542352.1:c.1055C>T | XP_011540654.1:p.Ser352Leu | |
| XM_011542353.1:c.867C>T | XP_011540655.1:p.Leu289= | |
| XR_946786.1:n.924C>T | ||
| NM_001319218.1:c.1055C>T | NP_001306147.1:p.Ser352Leu | |
| XR_001737510.1:n.924C>T | ||
| NM_003748.4:c.1055C>T MANE Select | NP_003739.2:p.Ser352Leu | |
| NM_170726.3:c.1055C>T | NP_733844.1:p.Ser352Leu | |
| NM_001161504.2:c.875C>T | NP_001154976.1:p.Ser292Leu | |
| NM_001319218.2:c.1055C>T | NP_001306147.1:p.Ser352Leu |