Linked Data
ClinVar Variation Id:
482930
dbSNP Id:
rs80356849
ExAC:
17:41197749 C / G
gnomAD v2:
17-41197749-C-G
gnomAD v3:
17-43045732-C-G
gnomAD v4:
17-43045732-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43045732C>G , CM000679.2:g.43045732C>G | GRCh38 |
| NC_000017.10:g.41197749C>G , CM000679.1:g.41197749C>G | GRCh37 |
| NC_000017.9:g.38451275C>G | NCBI36 |
| NG_005905.2:g.172252G>C , LRG_292:g.172252G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461574.2:c.5535G>C | ENSP00000417241.2:p.Gln1845His | |
| ENST00000470026.6:c.5538G>C | ENSP00000419274.2:p.Gln1846His | |
| ENST00000473961.6:c.5412G>C | ENSP00000420201.2:p.Gln1804His | |
| ENST00000476777.6:c.5532G>C | ENSP00000417554.2:p.Gln1844His | |
| ENST00000477152.6:c.5460G>C | ENSP00000419988.2:p.Gln1820His | |
| ENST00000478531.6:c.2226G>C | ENSP00000420412.2:p.Gln742His | |
| ENST00000489037.2:c.5460G>C | ENSP00000420781.2:p.Gln1820His | |
| ENST00000493919.6:c.2088G>C | ENSP00000418819.2:p.Gln696His | |
| ENST00000494123.6:c.5538G>C | ENSP00000419103.2:p.Gln1846His | |
| ENST00000497488.2:c.4650G>C | ENSP00000418986.2:p.Gln1550His | |
| ENST00000618469.2:c.5538G>C | ENSP00000478114.2:p.Gln1846His | |
| ENST00000634433.2:c.5415G>C | ENSP00000489431.2:p.Gln1805His | |
| ENST00000644379.2:c.5604G>C | ENSP00000496570.2:p.Gln1868His | |
| ENST00000644555.2:c.2088G>C | ENSP00000494614.2:p.Gln696His | |
| ENST00000652672.2:c.5397G>C | ENSP00000498906.2:p.Gln1799His | |
| ENST00000484087.6:c.2100G>C | ENSP00000419481.2:p.Gln700His | |
| ENST00000700081.1:n.1421G>C | ||
| ENST00000700082.1:n.902G>C | ||
| ENST00000357654.9:c.5538G>C MANE Select | ENSP00000350283.3:p.Gln1846His | |
| ENST00000471181.7:c.5601G>C | ENSP00000418960.2:p.Gln1867His | |
| ENST00000644379.1:c.1925G>C | ||
| ENST00000352993.7:c.2112G>C | ENSP00000312236.5:p.Gln704His | |
| ENST00000357654.7:c.5538G>C | ENSP00000350283.3:p.Gln1846His | |
| ENST00000461221.5:c.*5321G>C | ENSP00000418548.1:n.*5321G>C | |
| ENST00000468300.5:c.*52G>C | ENSP00000417148.1:n.*52G>C | |
| ENST00000471181.6:c.5601G>C | ENSP00000418960.2:p.Gln1867His | |
| ENST00000491747.6:c.2226G>C | ENSP00000420705.2:p.Gln742His | |
| ENST00000493795.5:c.5397G>C | ENSP00000418775.1:p.Gln1799His | |
| ENST00000586385.5:c.468G>C | ENSP00000465818.1:p.Gln156His | |
| ENST00000591534.5:c.1011G>C | ENSP00000467329.1:p.Gln337His | |
| ENST00000591849.5:c.237G>C | ENSP00000465347.1:p.Gln79His | |
| NM_007294.3:c.5538G>C , LRG_292t1:c.5538G>C | NP_009225.1:p.Gln1846His | |
| NM_007297.3:c.5397G>C | NP_009228.2:p.Gln1799His | |
| NM_007298.3:c.2226G>C | NP_009229.2:p.Gln742His | |
| NM_007299.3:c.*52G>C | NP_009230.2:n.*52G>C | |
| NM_007300.3:c.5601G>C | NP_009231.2:p.Gln1867His | |
| NR_027676.1:n.5674G>C | ||
| NM_007294.4:c.5538G>C MANE Select | NP_009225.1:p.Gln1846His | |
| NM_007297.4:c.5397G>C | NP_009228.2:p.Gln1799His | |
| NM_007299.4:c.*52G>C | NP_009230.2:n.*52G>C | |
| NM_007300.4:c.5601G>C | NP_009231.2:p.Gln1867His | |
| NR_027676.2:n.5715G>C |