Linked Data
ClinVar Variation Id:
2569208
ClinVar RCV Id:
RCV004332819
dbSNP Id:
rs143661065
ExAC:
11:62010842 T / C
gnomAD v2:
11-62010842-T-C
gnomAD v3:
11-62243370-T-C
gnomAD v4:
11-62243370-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.62243370T>C , CM000673.2:g.62243370T>C | GRCh38 |
| NC_000011.9:g.62010842T>C , CM000673.1:g.62010842T>C | GRCh37 |
| NC_000011.8:g.61767418T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000244926.4:c.137T>C MANE Select | ENSP00000244926.3:p.Leu46Pro | |
| ENST00000244926.3:c.137T>C | ENSP00000244926.3:p.Leu46Pro | |
| NM_006551.3:c.137T>C | NP_006542.1:p.Leu46Pro | |
| XM_006718422.2:c.137T>C | XP_006718485.1:p.Leu46Pro | |
| NM_006551.4:c.137T>C MANE Select | NP_006542.1:p.Leu46Pro |