Linked Data
ClinVar Variation Id:
1393881
ClinVar RCV Id:
RCV001884647
dbSNP Id:
rs774415864
ExAC:
2:15358911 A / G
gnomAD v2:
2-15358911-A-G
gnomAD v3:
2-15218787-A-G
gnomAD v4:
2-15218787-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.15218787A>G , CM000664.2:g.15218787A>G | GRCh38 |
| NC_000002.11:g.15358911A>G , CM000664.1:g.15358911A>G | GRCh37 |
| NC_000002.10:g.15276362A>G | NCBI36 |
| NG_032964.1:g.347562T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700061.1:c.4404T>C | ||
| ENST00000700062.1:c.4426+13635T>C | ||
| ENST00000700063.1:c.929T>C | ||
| ENST00000700064.1:c.2274T>C | ||
| ENST00000281513.10:c.6418T>C MANE Select | ENSP00000281513.5:p.Trp2140Arg | |
| ENST00000281513.9:c.6418T>C | ENSP00000281513.5:p.Trp2140Arg | |
| ENST00000417461.5:c.512+13635T>C | ENSP00000392421.1:n.512+13635T>C | |
| ENST00000442506.5:c.3561T>C | ||
| NM_015909.3:c.6418T>C | NP_056993.2:p.Trp2140Arg | |
| NR_052013.2:n.6280+13635T>C | ||
| XM_011510357.1:c.6289T>C | XP_011508659.1:p.Trp2097Arg | |
| XM_011510358.1:c.6418T>C | XP_011508660.1:p.Trp2140Arg | |
| XM_011510359.1:c.5779T>C | XP_011508661.1:p.Trp1927Arg | |
| XM_011510360.1:c.4219T>C | XP_011508662.1:p.Trp1407Arg | |
| XM_011510361.1:c.4210T>C | XP_011508663.1:p.Trp1404Arg | |
| XM_011510357.2:c.6289T>C | XP_011508659.1:p.Trp2097Arg | |
| XM_011510358.2:c.6418T>C | XP_011508660.1:p.Trp2140Arg | |
| XM_011510360.2:c.4219T>C | XP_011508662.1:p.Trp1407Arg | |
| XM_011510361.2:c.4210T>C | XP_011508663.1:p.Trp1404Arg | |
| XM_017004317.1:c.6418T>C | XP_016859806.1:p.Trp2140Arg | |
| XM_024452961.1:c.5779T>C | XP_024308729.1:p.Trp1927Arg | |
| NM_015909.4:c.6418T>C MANE Select | NP_056993.2:p.Trp2140Arg | |
| NR_052013.3:n.6266+13635T>C |