Linked Data
dbSNP Id:
rs775883486
ExAC:
10:73558316 G / C
gnomAD v2:
10-73558316-G-C
gnomAD v4:
10-71798559-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.71798559G>C , CM000672.2:g.71798559G>C | GRCh38 |
| NC_000010.10:g.73558316G>C , CM000672.1:g.73558316G>C | GRCh37 |
| NC_000010.9:g.73228322G>C | NCBI36 |
| NG_008835.1:g.406613G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000224721.12:c.7035G>C MANE Select | ENSP00000224721.9:p.Gln2345His | |
| ENST00000642965.1:c.968G>C | ENSP00000495222.1:n.968G>C | |
| ENST00000647092.1:c.632G>C | ENSP00000495176.1:n.632G>C | |
| ENST00000224721.10:c.7050G>C | ENSP00000224721.8:p.Gln2350His | |
| ENST00000398788.4:c.315G>C | ENSP00000381768.3:p.Gln105His | |
| ENST00000475158.1:n.571G>C | ||
| ENST00000619887.4:c.315G>C | ENSP00000478374.1:p.Gln105His | |
| ENST00000622827.4:c.7035G>C | ENSP00000483211.1:p.Gln2345His | |
| NM_001171933.1:c.315G>C | NP_001165404.1:p.Gln105His | |
| NM_001171934.1:c.315G>C | NP_001165405.1:p.Gln105His | |
| NM_022124.5:c.7035G>C | NP_071407.4:p.Gln2345His | |
| XM_006717940.2:c.7230G>C | XP_006718003.1:p.Gln2410His | |
| XM_006717942.2:c.7164G>C | XP_006718005.1:p.Gln2388His | |
| XM_011540039.1:c.7227G>C | XP_011538341.1:p.Gln2409His | |
| XM_011540040.1:c.7224G>C | XP_011538342.1:p.Gln2408His | |
| XM_011540041.1:c.7170G>C | XP_011538343.1:p.Gln2390His | |
| XM_011540042.1:c.7140G>C | XP_011538344.1:p.Gln2380His | |
| XM_011540043.1:c.7230G>C | XP_011538345.1:p.Gln2410His | |
| XM_011540044.1:c.7095G>C | XP_011538346.1:p.Gln2365His | |
| XM_011540045.1:c.7230G>C | XP_011538347.1:p.Gln2410His | |
| XM_011540046.1:c.6690G>C | XP_011538348.1:p.Gln2230His | |
| XM_011540047.1:c.6048G>C | XP_011538349.1:p.Gln2016His | |
| XM_011540052.1:c.3558G>C | XP_011538354.1:p.Gln1186His | |
| NM_022124.6:c.7035G>C MANE Select | NP_071407.4:p.Gln2345His |