Linked Data
ClinVar Variation Id:
451871
ClinVar RCV Id:
RCV000522654
dbSNP Id:
rs768588742
ExAC:
5:16474901 C / G
gnomAD v2:
5-16474901-C-G
gnomAD v4:
5-16474792-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.16474792C>G , CM000667.2:g.16474792C>G | GRCh38 |
| NC_000005.9:g.16474901C>G , CM000667.1:g.16474901C>G | GRCh37 |
| NC_000005.8:g.16527901C>G | NCBI36 |
| NG_016644.2:g.147218G>C , LRG_363:g.147218G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000509977.2:n.1091G>C | ||
| ENST00000510362.6:c.918G>C | ENSP00000425089.2:p.Gln306His | |
| ENST00000682142.1:c.1140G>C | ENSP00000506804.1:p.Gln380His | |
| ENST00000682229.1:c.1599G>C | ENSP00000507342.1:p.Gln533His | |
| ENST00000682564.1:c.1440G>C | ENSP00000508099.1:p.Gln480His | |
| ENST00000682628.1:c.918G>C | ENSP00000507536.1:p.Gln306His | |
| ENST00000682982.1:n.2217G>C | ||
| ENST00000683045.1:n.5987G>C | ||
| ENST00000683130.1:c.*689G>C | ENSP00000507709.1:n.*689G>C | |
| ENST00000683169.1:n.1942G>C | ||
| ENST00000683414.1:c.918G>C | ENSP00000508335.1:p.Gln306His | |
| ENST00000683527.1:c.*742G>C | ENSP00000507253.1:n.*742G>C | |
| ENST00000683539.1:c.918G>C | ENSP00000507466.1:p.Gln306His | |
| ENST00000684456.1:c.375G>C | ENSP00000508060.1:p.Gln125His | |
| ENST00000684521.1:c.1305G>C | ENSP00000507521.1:p.Gln435His | |
| ENST00000684695.1:n.3713G>C | ||
| ENST00000306320.10:c.1443G>C MANE Select | ENSP00000304642.9:p.Gln481His | |
| ENST00000306320.9:c.1443G>C | ENSP00000304642.9:p.Gln481His | |
| ENST00000399793.6:c.1020G>C | ENSP00000382691.2:p.Gln340His | |
| ENST00000510362.5:c.602G>C | ||
| NM_001034850.2:c.1443G>C , LRG_363t1:c.1443G>C | NP_001030022.1:p.Gln481His | |
| NM_019000.4:c.1020G>C | NP_061873.2:p.Gln340His | |
| XM_011514053.1:c.1563G>C | XP_011512355.1:p.Gln521His | |
| XM_011514054.1:c.1140G>C | XP_011512356.1:p.Gln380His | |
| XM_011514055.1:c.1044G>C | XP_011512357.1:p.Gln348His | |
| XM_011514053.3:c.1563G>C | XP_011512355.1:p.Gln521His | |
| XM_011514054.2:c.1140G>C | XP_011512356.1:p.Gln380His | |
| XM_011514055.3:c.1044G>C | XP_011512357.1:p.Gln348His | |
| XM_024446117.1:c.918G>C | XP_024301885.1:p.Gln306His | |
| XM_024446118.1:c.918G>C | XP_024301886.1:p.Gln306His | |
| NM_001034850.3:c.1443G>C MANE Select | NP_001030022.1:p.Gln481His | |
| NM_019000.5:c.1020G>C | NP_061873.2:p.Gln340His |