Linked Data
ClinVar Variation Id:
203527
ClinVar RCV Id:
RCV000193200
dbSNP Id:
rs766034355
ExAC:
4:123859289 C / T
gnomAD v2:
4-123859289-C-T
gnomAD v3:
4-122938134-C-T
gnomAD v4:
4-122938134-C-T
PubMed:
PMID:26299366
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.122938134C>T , CM000666.2:g.122938134C>T | GRCh38 |
| NC_000004.11:g.123859289C>T , CM000666.1:g.123859289C>T | GRCh37 |
| NC_000004.10:g.124078739C>T | NCBI36 |
| NG_051570.1:g.20065C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000274008.5:c.1343C>T MANE Select | ENSP00000274008.3:p.Ser448Leu | |
| ENST00000674886.1:n.1405C>T | ||
| ENST00000675612.1:c.1340C>T | ENSP00000502453.1:p.Ser447Leu | |
| ENST00000274008.4:c.1343C>T | ENSP00000274008.3:p.Ser448Leu | |
| ENST00000422835.2:n.1385C>T | ||
| NM_145207.2:c.1343C>T | NP_660208.2:p.Ser448Leu | |
| XM_005262783.3:c.1340C>T | XP_005262840.1:p.Ser447Leu | |
| XM_011531678.1:c.1340C>T | XP_011529980.1:p.Ser447Leu | |
| XM_011531679.1:c.1343C>T | XP_011529981.1:p.Ser448Leu | |
| NM_001317799.1:c.1340C>T | NP_001304728.1:p.Ser447Leu | |
| NM_001345856.1:c.1340C>T | NP_001332785.1:p.Ser447Leu | |
| XM_011531678.2:c.1340C>T | XP_011529980.1:p.Ser447Leu | |
| XM_011531679.3:c.1343C>T | XP_011529981.1:p.Ser448Leu | |
| XM_017007825.1:c.1343C>T | XP_016863314.1:p.Ser448Leu | |
| XM_017007826.1:c.1343C>T | XP_016863315.1:p.Ser448Leu | |
| XM_017007827.2:c.1343C>T | XP_016863316.1:p.Ser448Leu | |
| XM_017007828.1:c.1121C>T | XP_016863317.1:p.Ser374Leu | |
| XM_017007829.1:c.887C>T | XP_016863318.1:p.Ser296Leu | |
| XM_017007830.1:c.1343C>T | XP_016863319.1:p.Ser448Leu | |
| XR_001741151.1:n.1413C>T | ||
| NM_145207.3:c.1343C>T MANE Select | NP_660208.2:p.Ser448Leu | |
| NM_001317799.2:c.1340C>T | NP_001304728.1:p.Ser447Leu | |
| NM_001345856.2:c.1340C>T | NP_001332785.1:p.Ser447Leu |