Linked Data
ClinVar Variation Id:
2342200
ClinVar RCV Id:
RCV004181227
dbSNP Id:
rs141279811
ExAC:
2:79254223 T / C
gnomAD v2:
2-79254223-T-C
gnomAD v3:
2-79027097-T-C
gnomAD v4:
2-79027097-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.79027097T>C , CM000664.2:g.79027097T>C | GRCh38 |
| NC_000002.11:g.79254223T>C , CM000664.1:g.79254223T>C | GRCh37 |
| NC_000002.10:g.79107731T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000272324.10:c.259T>C MANE Select | ENSP00000272324.5:p.Phe87Leu | |
| ENST00000272324.9:c.259T>C | ENSP00000272324.5:p.Phe87Leu | |
| ENST00000393897.6:c.259T>C | ENSP00000377475.2:p.Phe87Leu | |
| ENST00000409471.1:c.195+266T>C | ENSP00000387105.1:n.195+266T>C | |
| ENST00000490944.1:n.813T>C | ||
| NM_001008387.2:c.259T>C | NP_001008388.1:p.Phe87Leu | |
| NM_001270040.1:c.195+266T>C | NP_001256969.1:n.195+266T>C | |
| NM_198448.3:c.259T>C | NP_940850.1:p.Phe87Leu | |
| XM_005264135.1:c.259T>C | XP_005264192.1:p.Phe87Leu | |
| XM_005264135.2:c.259T>C | XP_005264192.1:p.Phe87Leu | |
| XM_024452693.1:c.195+266T>C | XP_024308461.1:n.195+266T>C | |
| XM_024452694.1:c.195+266T>C | XP_024308462.1:n.195+266T>C | |
| NM_001008387.3:c.259T>C MANE Select | NP_001008388.1:p.Phe87Leu | |
| NM_001270040.2:c.195+266T>C | NP_001256969.1:n.195+266T>C | |
| NM_198448.4:c.259T>C | NP_940850.1:p.Phe87Leu |