Linked Data
ClinVar Variation Id:
1175249
ClinVar RCV Id:
RCV001530291
dbSNP Id:
rs2152011095
gnomAD v4:
6-42722219-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.42722219A>G , CM000668.2:g.42722219A>G | GRCh38 |
| NC_000006.11:g.42689957A>G , CM000668.1:g.42689957A>G | GRCh37 |
| NC_000006.10:g.42797935A>G | NCBI36 |
| NG_009176.1:g.5402T>C | |
| NG_009176.2:g.5402T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000230381.7:c.116T>C MANE Select | ENSP00000230381.5:p.Leu39Pro | |
| ENST00000230381.6:c.116T>C | ENSP00000230381.5:p.Leu39Pro | |
| NM_000322.4:c.116T>C | NP_000313.2:p.Leu39Pro | |
| XR_427834.2:n.771T>C | ||
| XR_926295.1:n.771T>C | ||
| XR_427834.4:n.821T>C | ||
| XR_926295.3:n.821T>C | ||
| NM_000322.5:c.116T>C MANE Select | NP_000313.2:p.Leu39Pro |