Linked Data
ClinVar Variation Id:
18300
ClinVar RCV Id:
RCV000019962
dbSNP Id:
rs104894508
ExAC:
16:88876549 A / G
gnomAD v2:
16-88876549-A-G
gnomAD v3:
16-88810141-A-G
gnomAD v4:
16-88810141-A-G
PubMed:
PMID:7915931
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.88810141A>G , CM000678.2:g.88810141A>G | GRCh38 |
| NC_000016.9:g.88876549A>G , CM000678.1:g.88876549A>G | GRCh37 |
| NC_000016.8:g.87404050A>G | NCBI36 |
| NG_008013.1:g.6794T>C | |
| NG_028266.1:g.11364A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378364.8:c.329T>C MANE Select | ENSP00000367615.3:p.Leu110Pro | |
| ENST00000378364.7:c.329T>C | ENSP00000367615.3:p.Leu110Pro | |
| ENST00000426324.6:c.329T>C | ENSP00000397007.2:p.Leu110Pro | |
| ENST00000562464.1:n.339T>C | ||
| ENST00000563655.5:c.248T>C | ENSP00000456012.1:p.Leu83Pro | |
| ENST00000567057.5:n.128T>C | ||
| ENST00000567391.5:c.*3T>C | ENSP00000457964.1:n.*3T>C | |
| ENST00000567713.5:c.321+282T>C | ENSP00000455749.1:n.321+282T>C | |
| ENST00000568319.5:c.*3T>C | ENSP00000456905.1:n.*3T>C | |
| ENST00000568575.1:n.258T>C | ||
| ENST00000569616.1:c.327T>C | ||
| NM_000485.2:c.329T>C | NP_000476.1:p.Leu110Pro | |
| NM_001030018.1:c.329T>C | NP_001025189.1:p.Leu110Pro | |
| NM_000485.3:c.329T>C MANE Select | NP_000476.1:p.Leu110Pro | |
| NM_001030018.2:c.329T>C | NP_001025189.1:p.Leu110Pro |