Linked Data
ClinVar Variation Id:
335104
dbSNP Id:
rs145581705
ExAC:
2:238250718 A / G
gnomAD v2:
2-238250718-A-G
gnomAD v3:
2-237342075-A-G
gnomAD v4:
2-237342075-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.237342075A>G , CM000664.2:g.237342075A>G | GRCh38 |
| NC_000002.11:g.238250718A>G , CM000664.1:g.238250718A>G | GRCh37 |
| NC_000002.10:g.237915457A>G | NCBI36 |
| NG_008676.1:g.77133T>C , LRG_473:g.77133T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000347401.8:c.400T>C | ||
| ENST00000353578.9:c.7137T>C | ENSP00000315873.4:p.His2379= | |
| ENST00000684508.1:n.22T>C | ||
| ENST00000295550.9:c.7755T>C MANE Select | ENSP00000295550.4:p.His2585= | |
| ENST00000295550.8:c.7755T>C | ENSP00000295550.4:p.His2585= | |
| ENST00000347401.7:c.5931T>C | ENSP00000315609.4:p.His1977= | |
| ENST00000353578.8:c.7137T>C | ENSP00000315873.4:p.His2379= | |
| ENST00000409809.5:c.7137T>C | ENSP00000386844.1:p.His2379= | |
| ENST00000472056.5:c.5934T>C | ENSP00000418285.1:p.His1978= | |
| ENST00000491769.1:n.4197T>C | ||
| NM_004369.3:c.7755T>C , LRG_473t1:c.7755T>C | NP_004360.2:p.His2585= | |
| NM_057166.4:c.5934T>C | NP_476507.3:p.His1978= | |
| NM_057167.3:c.7137T>C | NP_476508.2:p.His2379= | |
| XM_005246065.1:c.7155T>C | XP_005246122.1:p.His2385= | |
| XM_005246066.1:c.6534T>C | XP_005246123.1:p.His2178= | |
| XM_006712253.1:c.7254T>C | XP_006712316.1:p.His2418= | |
| XM_011510574.1:c.7752T>C | XP_011508876.1:p.His2584= | |
| XM_011510575.1:c.5349T>C | XP_011508877.1:p.His1783= | |
| XM_017003304.1:c.5349T>C | XP_016858793.1:p.His1783= | |
| XM_024452684.1:c.6534T>C | XP_024308452.1:p.His2178= | |
| NM_004369.4:c.7755T>C MANE Select | NP_004360.2:p.His2585= | |
| NM_057166.5:c.5934T>C | NP_476507.3:p.His1978= | |
| NM_057167.4:c.7137T>C | NP_476508.2:p.His2379= |