Linked Data
ClinVar Variation Id:
476544
dbSNP Id:
rs750063736
ExAC:
2:238270421 C / G
gnomAD v2:
2-238270421-C-G
gnomAD v3:
2-237361778-C-G
gnomAD v4:
2-237361778-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.237361778C>G , CM000664.2:g.237361778C>G | GRCh38 |
| NC_000002.11:g.238270421C>G , CM000664.1:g.238270421C>G | GRCh37 |
| NC_000002.10:g.237935160C>G | NCBI36 |
| NG_008676.1:g.57430G>C , LRG_473:g.57430G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000353578.9:c.5499G>C | ENSP00000315873.4:p.Gln1833His | |
| ENST00000295550.9:c.6117G>C MANE Select | ENSP00000295550.4:p.Gln2039His | |
| ENST00000295550.8:c.6117G>C | ENSP00000295550.4:p.Gln2039His | |
| ENST00000347401.7:c.4296G>C | ENSP00000315609.4:p.Gln1432His | |
| ENST00000353578.8:c.5499G>C | ENSP00000315873.4:p.Gln1833His | |
| ENST00000409809.5:c.5499G>C | ENSP00000386844.1:p.Gln1833His | |
| ENST00000472056.5:c.4296G>C | ENSP00000418285.1:p.Gln1432His | |
| NM_004369.3:c.6117G>C , LRG_473t1:c.6117G>C | NP_004360.2:p.Gln2039His | |
| NM_057166.4:c.4296G>C | NP_476507.3:p.Gln1432His | |
| NM_057167.3:c.5499G>C | NP_476508.2:p.Gln1833His | |
| XM_005246065.1:c.5517G>C | XP_005246122.1:p.Gln1839His | |
| XM_005246066.1:c.4896G>C | XP_005246123.1:p.Gln1632His | |
| XM_006712253.1:c.5616G>C | XP_006712316.1:p.Gln1872His | |
| XM_011510574.1:c.6114G>C | XP_011508876.1:p.Gln2038His | |
| XM_011510575.1:c.3711G>C | XP_011508877.1:p.Gln1237His | |
| XM_017003304.1:c.3711G>C | XP_016858793.1:p.Gln1237His | |
| XM_024452684.1:c.4896G>C | XP_024308452.1:p.Gln1632His | |
| NM_004369.4:c.6117G>C MANE Select | NP_004360.2:p.Gln2039His | |
| NM_057166.5:c.4296G>C | NP_476507.3:p.Gln1432His | |
| NM_057167.4:c.5499G>C | NP_476508.2:p.Gln1833His |