Linked Data
dbSNP Id:
rs572212551
ExAC:
11:17634285 T / G
gnomAD v2:
11-17634285-T-G
gnomAD v3:
11-17612738-T-G
gnomAD v4:
11-17612738-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17612738T>G , CM000673.2:g.17612738T>G | GRCh38 |
| NC_000011.9:g.17634285T>G , CM000673.1:g.17634285T>G | GRCh37 |
| NC_000011.8:g.17590861T>G | NCBI36 |
| NG_033191.1:g.70366T>G | |
| NG_033191.2:g.70366T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000399391.7:c.6447T>G | ENSP00000382323.2:p.His2149Gln | |
| ENST00000399397.6:c.6411T>G MANE Select | ENSP00000382329.2:p.His2137Gln | |
| ENST00000342528.2:c.3465T>G | ENSP00000341666.2:p.His1155Gln | |
| ENST00000399391.6:c.6447T>G | ENSP00000382323.2:p.His2149Gln | |
| ENST00000399397.5:c.6411T>G | ENSP00000382329.2:p.His2137Gln | |
| NM_001277269.1:c.6447T>G | NP_001264198.1:p.His2149Gln | |
| NM_001292063.1:c.6411T>G | NP_001278992.1:p.His2137Gln | |
| NM_001277269.2:c.6447T>G | NP_001264198.1:p.His2149Gln | |
| NM_001292063.2:c.6411T>G MANE Select | NP_001278992.1:p.His2137Gln |