Linked Data
ClinVar Variation Id:
127888
dbSNP Id:
rs141690729
ExAC:
17:33434075 T / G
gnomAD v2:
17-33434075-T-G
gnomAD v3:
17-35107056-T-G
gnomAD v4:
17-35107056-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.35107056T>G , CM000679.2:g.35107056T>G | GRCh38 |
| NC_000017.10:g.33434075T>G , CM000679.1:g.33434075T>G | GRCh37 |
| NC_000017.9:g.30458188T>G | NCBI36 |
| NG_031858.1:g.17814A>C , LRG_516:g.17814A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000586186.3:c.345+310A>C | ENSP00000468273.3:n.345+310A>C | |
| ENST00000587405.6:c.55A>C | ENSP00000466478.2:p.Asn19His | |
| ENST00000590016.6:c.472A>C | ENSP00000466399.1:p.Asn158His | |
| ENST00000590631.2:n.437-575A>C | ||
| ENST00000592577.6:c.55A>C | ENSP00000466839.2:p.Asn19His | |
| ENST00000345365.11:c.412A>C MANE Select | ENSP00000338790.6:p.Asn138His | |
| ENST00000335858.11:c.145-575A>C | ENSP00000338408.6:n.145-575A>C | |
| ENST00000345365.10:c.412A>C | ENSP00000338790.6:p.Asn138His | |
| ENST00000394589.8:c.412A>C | ENSP00000378090.4:p.Asn138His | |
| ENST00000415064.6:n.562A>C | ||
| ENST00000460118.6:c.-120A>C | ENSP00000464356.2:n.-120A>C | |
| ENST00000585343.5:c.494A>C | ||
| ENST00000585947.5:n.308A>C | ||
| ENST00000585982.5:n.500+310A>C | ||
| ENST00000586044.5:c.*143A>C | ENSP00000465584.1:n.*143A>C | |
| ENST00000586186.2:c.248+310A>C | ||
| ENST00000586210.5:c.*6A>C | ENSP00000465612.1:n.*6A>C | |
| ENST00000587405.5:c.55A>C | ENSP00000466478.1:p.Asn19His | |
| ENST00000587977.5:c.*152A>C | ENSP00000466587.1:n.*152A>C | |
| ENST00000587982.5:n.273+310A>C | ||
| ENST00000588372.5:c.55A>C | ENSP00000468764.1:p.Asn19His | |
| ENST00000588594.5:c.*76+310A>C | ENSP00000465366.1:n.*76+310A>C | |
| ENST00000590016.5:c.472A>C | ENSP00000466399.1:p.Asn158His | |
| ENST00000590631.1:c.-51-575A>C | ENSP00000465033.1:n.-51-575A>C | |
| ENST00000591723.5:c.-52+310A>C | ENSP00000467986.1:n.-52+310A>C | |
| ENST00000592181.1:c.55A>C | ENSP00000464799.1:p.Asn19His | |
| ENST00000592430.5:n.381A>C | ||
| ENST00000592577.5:c.418A>C | ENSP00000466839.1:p.Asn140His | |
| ENST00000592850.5:c.346-575A>C | ||
| ENST00000592928.2:n.167-575A>C | ||
| ENST00000593039.5:c.4-575A>C | ENSP00000466834.1:n.4-575A>C | |
| NM_001142571.1:c.472A>C | NP_001136043.1:p.Asn158His | |
| NM_002878.3:c.412A>C , LRG_516t1:c.412A>C | NP_002869.3:p.Asn138His | |
| NM_133629.2:c.145-575A>C | NP_598332.1:n.145-575A>C | |
| NR_037711.1:n.549A>C | ||
| NR_037712.1:n.482+310A>C | ||
| NR_037714.1:n.233-575A>C | ||
| NM_001142571.2:c.472A>C | NP_001136043.1:p.Asn158His | |
| NM_133629.3:c.145-575A>C | NP_598332.1:n.145-575A>C | |
| NR_037711.2:n.438A>C | ||
| NR_037712.2:n.371+310A>C | ||
| NM_002878.4:c.412A>C MANE Select | NP_002869.3:p.Asn138His |