Linked Data
ClinVar Variation Id:
2368537
ClinVar RCV Id:
RCV004205091
dbSNP Id:
rs148789705
ExAC:
11:102567112 A / G
gnomAD v2:
11-102567112-A-G
gnomAD v3:
11-102696381-A-G
gnomAD v4:
11-102696381-A-G
MyVariant Identifiers:
chr11:g.102567112A>G (hg19)
chr11:g.102567112_102567113delinsGG (hg19)
chr11:g.102696381A>G (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.102696381A>G , CM000673.2:g.102696381A>G | GRCh38 |
| NC_000011.9:g.102567112A>G , CM000673.1:g.102567112A>G | GRCh37 |
| NC_000011.8:g.102072322A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260229.5:c.892T>C MANE Select | ENSP00000260229.4:p.Phe298Leu | |
| ENST00000260229.4:c.892T>C | ENSP00000260229.4:p.Phe298Leu | |
| NM_022122.2:c.892T>C | NP_071405.2:p.Phe298Leu | |
| XM_011542948.1:c.763T>C | XP_011541250.1:p.Phe255Leu | |
| XM_011542949.1:c.730T>C | XP_011541251.1:p.Phe244Leu | |
| XM_011542950.1:c.577T>C | XP_011541252.1:p.Phe193Leu | |
| XM_011542951.1:c.892T>C | XP_011541253.1:p.Phe298Leu | |
| XM_011542948.2:c.763T>C | XP_011541250.1:p.Phe255Leu | |
| XM_011542949.2:c.730T>C | XP_011541251.1:p.Phe244Leu | |
| XM_011542950.3:c.577T>C | XP_011541252.1:p.Phe193Leu | |
| XM_017018120.1:c.889T>C | XP_016873609.1:p.Phe297Leu | |
| NM_022122.3:c.892T>C MANE Select | NP_071405.2:p.Phe298Leu |