Linked Data
ClinVar Variation Id:
289371
dbSNP Id:
rs777097924
ExAC:
2:238268758 C / T
gnomAD v2:
2-238268758-C-T
gnomAD v3:
2-237360115-C-T
gnomAD v4:
2-237360115-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.237360115C>T , CM000664.2:g.237360115C>T | GRCh38 |
| NC_000002.11:g.238268758C>T , CM000664.1:g.238268758C>T | GRCh37 |
| NC_000002.10:g.237933497C>T | NCBI36 |
| NG_008676.1:g.59093G>A , LRG_473:g.59093G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000353578.9:c.5637G>A | ENSP00000315873.4:p.Gln1879= | |
| ENST00000295550.9:c.6255G>A MANE Select | ENSP00000295550.4:p.Gln2085= | |
| ENST00000295550.8:c.6255G>A | ENSP00000295550.4:p.Gln2085= | |
| ENST00000347401.7:c.4434G>A | ENSP00000315609.4:p.Gln1478= | |
| ENST00000353578.8:c.5637G>A | ENSP00000315873.4:p.Gln1879= | |
| ENST00000409809.5:c.5637G>A | ENSP00000386844.1:p.Gln1879= | |
| ENST00000472056.5:c.4434G>A | ENSP00000418285.1:p.Gln1478= | |
| NM_004369.3:c.6255G>A , LRG_473t1:c.6255G>A | NP_004360.2:p.Gln2085= | |
| NM_057166.4:c.4434G>A | NP_476507.3:p.Gln1478= | |
| NM_057167.3:c.5637G>A | NP_476508.2:p.Gln1879= | |
| XM_005246065.1:c.5655G>A | XP_005246122.1:p.Gln1885= | |
| XM_005246066.1:c.5034G>A | XP_005246123.1:p.Gln1678= | |
| XM_006712253.1:c.5754G>A | XP_006712316.1:p.Gln1918= | |
| XM_011510574.1:c.6252G>A | XP_011508876.1:p.Gln2084= | |
| XM_011510575.1:c.3849G>A | XP_011508877.1:p.Gln1283= | |
| XM_017003304.1:c.3849G>A | XP_016858793.1:p.Gln1283= | |
| XM_024452684.1:c.5034G>A | XP_024308452.1:p.Gln1678= | |
| NM_004369.4:c.6255G>A MANE Select | NP_004360.2:p.Gln2085= | |
| NM_057166.5:c.4434G>A | NP_476507.3:p.Gln1478= | |
| NM_057167.4:c.5637G>A | NP_476508.2:p.Gln1879= |