Linked Data
ClinVar Variation Id:
8778
dbSNP Id:
rs104894205
gnomAD v2:
11-19209833-A-G
gnomAD v3:
11-19188286-A-G
gnomAD v4:
11-19188286-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.19188286A>G , CM000673.2:g.19188286A>G | GRCh38 |
| NC_000011.9:g.19209833A>G , CM000673.1:g.19209833A>G | GRCh37 |
| NC_000011.8:g.19166409A>G | NCBI36 |
| NG_011932.2:g.27288T>C , LRG_440:g.27288T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000265968.9:c.131T>C MANE Select | ENSP00000265968.3:p.Leu44Pro | |
| ENST00000533783.2:c.131T>C | ENSP00000431813.1:p.Leu44Pro | |
| ENST00000647990.1:c.131T>C | ENSP00000496798.1:p.Leu44Pro | |
| ENST00000648719.1:c.113-3241T>C | ENSP00000497633.1:n.113-3241T>C | |
| ENST00000649235.1:c.131T>C | ENSP00000497388.1:p.Leu44Pro | |
| ENST00000649842.1:c.113-1938T>C | ENSP00000497531.1:n.113-1938T>C | |
| ENST00000265968.7:c.131T>C | ENSP00000265968.3:p.Leu44Pro | |
| ENST00000533783.1:c.131T>C | ENSP00000431813.1:p.Leu44Pro | |
| NM_003476.4:c.131T>C | NP_003467.1:p.Leu44Pro | |
| XM_024448698.1:c.113-1938T>C | XP_024304466.1:n.113-1938T>C | |
| NM_001369404.1:c.113-1938T>C | NP_001356333.1:n.113-1938T>C | |
| NM_003476.5:c.131T>C MANE Select | NP_003467.1:p.Leu44Pro |