Linked Data
dbSNP Id:
rs752653191
ExAC:
1:10384819 G / C
gnomAD v2:
1-10384819-G-C
gnomAD v4:
1-10324761-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.10324761G>C , CM000663.2:g.10324761G>C | GRCh38 |
| NC_000001.10:g.10384819G>C , CM000663.1:g.10384819G>C | GRCh37 |
| NC_000001.9:g.10307406G>C | NCBI36 |
| NG_008069.1:g.119056G>C , LRG_252:g.119056G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000696502.1:c.2403G>C | ENSP00000512668.1:p.Gln801His | |
| ENST00000696503.1:c.2466G>C | ENSP00000512669.1:p.Gln822His | |
| ENST00000696504.1:c.2466G>C | ENSP00000512670.1:p.Gln822His | |
| ENST00000676179.1:c.2541G>C MANE Select | ENSP00000502065.1:p.Gln847His | |
| ENST00000263934.10:c.2403G>C | ENSP00000263934.6:p.Gln801His | |
| ENST00000377081.5:c.2541G>C | ENSP00000366284.1:p.Gln847His | |
| ENST00000377086.5:c.2541G>C | ENSP00000366290.1:p.Gln847His | |
| ENST00000620295.2:c.2499G>C | ENSP00000478500.1:p.Gln833His | |
| ENST00000622724.3:c.2463G>C | ENSP00000480063.1:p.Gln821His | |
| NM_015074.3:c.2403G>C , LRG_252t1:c.2403G>C | NP_055889.2:p.Gln801His | |
| NM_001365951.1:c.2541G>C | NP_001352880.1:p.Gln847His | |
| NM_001365952.1:c.2541G>C | NP_001352881.1:p.Gln847His | |
| NM_001365951.3:c.2541G>C MANE Select | NP_001352880.1:p.Gln847His |