Linked Data
ClinVar Variation Id:
952453
ClinVar RCV Id:
RCV001224568
dbSNP Id:
rs774152850
ExAC:
11:71907129 T / C
gnomAD v2:
11-71907129-T-C
gnomAD v4:
11-72196085-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.72196085T>C , CM000673.2:g.72196085T>C | GRCh38 |
| NC_000011.9:g.71907129T>C , CM000673.1:g.71907129T>C | GRCh37 |
| NC_000011.8:g.71584777T>C | NCBI36 |
| NG_015863.1:g.11528T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000312293.9:c.682T>C | ENSP00000308137.4:p.Phe228Leu | |
| ENST00000393676.5:c.682T>C MANE Select | ENSP00000377281.3:p.Phe228Leu | |
| ENST00000675784.1:c.682T>C | ENSP00000502440.1:p.Phe228Leu | |
| ENST00000312293.8:c.682T>C | ENSP00000308137.4:p.Phe228Leu | |
| ENST00000393676.3:c.682T>C | ENSP00000377281.3:p.Phe228Leu | |
| ENST00000393679.5:c.682T>C | ENSP00000377284.1:p.Phe228Leu | |
| ENST00000393681.6:c.682T>C | ENSP00000377286.2:p.Phe228Leu | |
| NM_000802.3:c.682T>C | NP_000793.1:p.Phe228Leu | |
| NM_016724.2:c.682T>C | NP_057936.1:p.Phe228Leu | |
| NM_016725.2:c.682T>C | NP_057937.1:p.Phe228Leu | |
| NM_016729.2:c.682T>C | NP_057941.1:p.Phe228Leu | |
| NM_016729.3:c.682T>C MANE Select | NP_057941.1:p.Phe228Leu | |
| NM_016724.3:c.682T>C | NP_057936.1:p.Phe228Leu | |
| NM_016725.3:c.682T>C | NP_057937.1:p.Phe228Leu |