Linked Data
ClinVar Variation Id:
523140
ClinVar RCV Id:
RCV000626413
dbSNP Id:
rs200188353
ExAC:
7:102944355 G / A
gnomAD v2:
7-102944355-G-A
gnomAD v3:
7-103303908-G-A
gnomAD v4:
7-103303908-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.103303908G>A , CM000669.2:g.103303908G>A | GRCh38 |
| NC_000007.13:g.102944355G>A , CM000669.1:g.102944355G>A | GRCh37 |
| NC_000007.12:g.102731591G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000469560.2:n.564G>A | ||
| ENST00000706437.1:c.524G>A | ENSP00000516380.1:p.Arg175His | |
| ENST00000706438.1:n.564G>A | ||
| ENST00000706439.1:c.524G>A | ENSP00000516381.1:p.Arg175His | |
| ENST00000706440.1:c.524G>A | ENSP00000516382.1:p.Arg175His | |
| ENST00000706441.1:n.564G>A | ||
| ENST00000706442.1:c.524G>A | ENSP00000516383.1:p.Arg175His | |
| ENST00000706443.1:c.524G>A | ENSP00000516384.1:p.Arg175His | |
| ENST00000706447.1:c.524G>A | ENSP00000516385.1:p.Arg175His | |
| ENST00000706448.1:c.524G>A | ENSP00000516386.1:p.Arg175His | |
| ENST00000706449.1:c.524G>A | ENSP00000516387.1:p.Arg175His | |
| ENST00000706450.1:c.524G>A | ENSP00000516388.1:p.Arg175His | |
| ENST00000706451.1:c.524G>A | ENSP00000516389.1:p.Arg175His | |
| ENST00000706452.1:c.524G>A | ENSP00000516390.1:p.Arg175His | |
| ENST00000706453.1:c.524G>A | ENSP00000516391.1:p.Arg175His | |
| ENST00000706454.1:c.524G>A | ENSP00000516392.1:p.Arg175His | |
| ENST00000706455.1:n.4083G>A | ||
| ENST00000706456.1:c.457+3601G>A | ENSP00000516393.1:n.457+3601G>A | |
| ENST00000706457.1:c.*550G>A | ENSP00000516394.1:n.*550G>A | |
| ENST00000706458.1:n.1262G>A | ||
| ENST00000706459.1:c.457+3601G>A | ENSP00000516395.1:n.457+3601G>A | |
| ENST00000706460.1:c.751G>A | ENSP00000516396.1:n.751G>A | |
| ENST00000706461.1:n.674G>A | ||
| ENST00000249269.9:c.524G>A MANE Select | ENSP00000249269.4:p.Arg175His | |
| ENST00000249269.8:c.524G>A | ENSP00000249269.4:p.Arg175His | |
| ENST00000428154.5:c.524G>A | ENSP00000390035.1:p.Arg175His | |
| ENST00000443722.5:c.*159G>A | ENSP00000402859.1:n.*159G>A | |
| ENST00000444457.5:c.*550G>A | ENSP00000388934.1:n.*550G>A | |
| ENST00000453466.1:c.*159G>A | ENSP00000408682.1:n.*159G>A | |
| ENST00000456433.5:c.458-78G>A | ENSP00000397884.1:n.458-78G>A | |
| ENST00000498530.5:n.528G>A | ||
| NM_004279.2:c.524G>A | NP_004270.2:p.Arg175His | |
| XM_005250717.2:c.524G>A | XP_005250774.1:p.Arg175His | |
| XM_006716181.2:c.524G>A | XP_006716244.1:p.Arg175His | |
| XR_242267.3:n.557G>A | ||
| XM_005250717.4:c.524G>A | XP_005250774.1:p.Arg175His | |
| XM_006716181.4:c.524G>A | XP_006716244.1:p.Arg175His | |
| XR_242267.5:n.549G>A | ||
| NM_004279.3:c.524G>A MANE Select | NP_004270.2:p.Arg175His |