Linked Data
ClinVar Variation Id:
1008951
ClinVar RCV Id:
RCV002543161
dbSNP Id:
rs369111527
ExAC:
1:245027293 A / G
gnomAD v2:
1-245027293-A-G
gnomAD v4:
1-244863991-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.244863991A>G , CM000663.2:g.244863991A>G | GRCh38 |
| NC_000001.10:g.245027293A>G , CM000663.1:g.245027293A>G | GRCh37 |
| NC_000001.9:g.243093916A>G | NCBI36 |
| NG_042184.1:g.5535T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000283179.14:c.317T>C | ENSP00000283179.10:p.Leu106Pro | |
| ENST00000444376.7:c.317T>C | ENSP00000393151.2:p.Leu106Pro | |
| ENST00000476241.2:n.502T>C | ||
| ENST00000638475.1:c.101T>C | ENSP00000491305.1:p.Leu34Pro | |
| ENST00000638952.1:n.548T>C | ||
| ENST00000640218.2:c.317T>C MANE Select | ENSP00000491215.1:p.Leu106Pro | |
| ENST00000640306.1:c.317T>C | ENSP00000491685.1:p.Leu106Pro | |
| ENST00000640440.1:c.17T>C | ENSP00000491263.1:p.Leu6Pro | |
| ENST00000649899.1:n.541T>C | ||
| ENST00000283179.13:c.317T>C | ENSP00000283179.9:p.Leu106Pro | |
| ENST00000444376.6:c.317T>C | ENSP00000393151.2:p.Leu106Pro | |
| ENST00000476241.1:n.501T>C | ||
| NM_004501.3:c.317T>C | NP_004492.2:p.Leu106Pro | |
| NM_031844.2:c.317T>C | NP_114032.2:p.Leu106Pro | |
| NM_031844.3:c.317T>C MANE Select | NP_114032.2:p.Leu106Pro |