Linked Data
ClinVar Variation Id:
2040972
ClinVar RCV Id:
RCV002890879
dbSNP Id:
rs1204653593
gnomAD v2:
17-33903141-A-G
gnomAD v4:
17-35576122-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.35576122A>G , CM000679.2:g.35576122A>G | GRCh38 |
| NC_000017.10:g.33903141A>G , CM000679.1:g.33903141A>G | GRCh37 |
| NC_000017.9:g.30927254A>G | NCBI36 |
| NG_008447.1:g.7516T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225873.9:c.740T>C MANE Select | ENSP00000225873.3:p.Leu247Pro | |
| ENST00000586663.2:c.740T>C | ENSP00000466894.2:p.Leu247Pro | |
| ENST00000225873.8:c.740T>C | ENSP00000225873.3:p.Leu247Pro | |
| ENST00000586663.1:c.740T>C | ENSP00000466894.1:p.Leu247Pro | |
| ENST00000613219.4:c.740T>C | ENSP00000482609.1:p.Leu247Pro | |
| NM_000286.2:c.740T>C | NP_000277.1:p.Leu247Pro | |
| NM_000286.3:c.740T>C MANE Select | NP_000277.1:p.Leu247Pro |