Linked Data
ClinVar Variation Id:
229262
dbSNP Id:
rs761094509
ExAC:
2:39250005 T / G
gnomAD v2:
2-39250005-T-G
gnomAD v4:
2-39022864-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.39022864T>G , CM000664.2:g.39022864T>G | GRCh38 |
| NC_000002.11:g.39250005T>G , CM000664.1:g.39250005T>G | GRCh37 |
| NC_000002.10:g.39103509T>G | NCBI36 |
| NG_007530.1:g.102600A>C , LRG_754:g.102600A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000472480.2:n.1444A>C | ||
| ENST00000685279.1:c.331A>C | ENSP00000509424.1:p.Asn111His | |
| ENST00000688043.1:n.1785A>C | ||
| ENST00000689668.1:n.1571A>C | ||
| ENST00000690876.1:c.1453A>C | ENSP00000508955.1:p.Asn485His | |
| ENST00000691229.1:c.1453A>C | ENSP00000510437.1:p.Asn485His | |
| ENST00000692089.1:c.1453A>C | ENSP00000508626.1:p.Asn485His | |
| ENST00000692620.1:c.331A>C | ENSP00000509311.1:p.Asn111His | |
| ENST00000402219.8:c.1564A>C MANE Select | ENSP00000384675.2:p.Asn522His | |
| ENST00000395038.6:c.1564A>C | ENSP00000378479.2:p.Asn522His | |
| ENST00000402219.6:c.1564A>C | ENSP00000384675.2:p.Asn522His | |
| ENST00000426016.5:c.1564A>C | ENSP00000387784.1:p.Asn522His | |
| NM_005633.3:c.1564A>C , LRG_754t1:c.1564A>C | NP_005624.2:p.Asn522His | |
| XM_005264515.3:c.1564A>C | XP_005264572.1:p.Asn522His | |
| XM_011533060.1:c.1657A>C | XP_011531362.1:p.Asn553His | |
| XM_011533061.1:c.1657A>C | XP_011531363.1:p.Asn553His | |
| XM_011533062.1:c.1543A>C | XP_011531364.1:p.Asn515His | |
| XM_011533063.1:c.1540A>C | XP_011531365.1:p.Asn514His | |
| XM_011533064.1:c.1393A>C | XP_011531366.1:p.Asn465His | |
| XM_011533065.1:c.1657A>C | XP_011531367.1:p.Asn553His | |
| XM_011533066.1:c.499A>C | XP_011531368.1:p.Asn167His | |
| XM_005264515.4:c.1564A>C | XP_005264572.1:p.Asn522His | |
| XM_011533062.2:c.1543A>C | XP_011531364.1:p.Asn515His | |
| XM_011533064.2:c.1393A>C | XP_011531366.1:p.Asn465His | |
| NM_001382394.1:c.1543A>C | NP_001369323.1:p.Asn515His | |
| NM_001382395.1:c.1564A>C | NP_001369324.1:p.Asn522His | |
| NM_005633.4:c.1564A>C MANE Select | NP_005624.2:p.Asn522His |