Linked Data
ClinVar Variation Id:
2187627
ClinVar RCV Id:
RCV002615905
dbSNP Id:
rs370836523
ExAC:
1:186136041 T / C
gnomAD v2:
1-186136041-T-C
gnomAD v3:
1-186166909-T-C
gnomAD v4:
1-186166909-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.186166909T>C , CM000663.2:g.186166909T>C | GRCh38 |
| NC_000001.10:g.186136041T>C , CM000663.1:g.186136041T>C | GRCh37 |
| NC_000001.9:g.184402664T>C | NCBI36 |
| NG_011841.1:g.437359T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000271588.9:c.15541T>C MANE Select | ENSP00000271588.4:p.Phe5181Leu | |
| ENST00000271588.8:c.15541T>C | ENSP00000271588.4:p.Phe5181Leu | |
| ENST00000475585.1:n.163-4428T>C | ||
| NM_031935.2:c.15541T>C | NP_114141.2:p.Phe5181Leu | |
| XM_011510037.1:c.15256T>C | XP_011508339.1:p.Phe5086Leu | |
| XM_011510038.1:c.15541T>C | XP_011508340.1:p.Phe5181Leu | |
| XM_011510038.3:c.15541T>C | XP_011508340.1:p.Phe5181Leu | |
| XM_017002437.1:c.13564T>C | XP_016857926.1:p.Phe4522Leu | |
| NM_031935.3:c.15541T>C MANE Select | NP_114141.2:p.Phe5181Leu |