Linked Data
ClinVar Variation Id:
284967
dbSNP Id:
rs746608405
ExAC:
2:238249289 C / G
gnomAD v2:
2-238249289-C-G
gnomAD v3:
2-237340646-C-G
gnomAD v4:
2-237340646-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.237340646C>G , CM000664.2:g.237340646C>G | GRCh38 |
| NC_000002.11:g.238249289C>G , CM000664.1:g.238249289C>G | GRCh37 |
| NC_000002.10:g.237914028C>G | NCBI36 |
| NG_008676.1:g.78562G>C , LRG_473:g.78562G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000347401.8:c.915G>C | ||
| ENST00000353578.9:c.7652G>C | ENSP00000315873.4:p.Arg2551Thr | |
| ENST00000682957.1:c.273G>C | ||
| ENST00000684508.1:n.537G>C | ||
| ENST00000295550.9:c.8270G>C MANE Select | ENSP00000295550.4:p.Arg2757Thr | |
| ENST00000295550.8:c.8270G>C | ENSP00000295550.4:p.Arg2757Thr | |
| ENST00000347401.7:c.6446G>C | ENSP00000315609.4:p.Arg2149Thr | |
| ENST00000353578.8:c.7652G>C | ENSP00000315873.4:p.Arg2551Thr | |
| ENST00000409809.5:c.7652G>C | ENSP00000386844.1:p.Arg2551Thr | |
| ENST00000472056.5:c.6449G>C | ENSP00000418285.1:p.Arg2150Thr | |
| ENST00000491769.1:n.4712G>C | ||
| NM_004369.3:c.8270G>C , LRG_473t1:c.8270G>C | NP_004360.2:p.Arg2757Thr | |
| NM_057166.4:c.6449G>C | NP_476507.3:p.Arg2150Thr | |
| NM_057167.3:c.7652G>C | NP_476508.2:p.Arg2551Thr | |
| XM_005246065.1:c.7670G>C | XP_005246122.1:p.Arg2557Thr | |
| XM_005246066.1:c.7049G>C | XP_005246123.1:p.Arg2350Thr | |
| XM_006712253.1:c.7769G>C | XP_006712316.1:p.Arg2590Thr | |
| XM_011510574.1:c.8267G>C | XP_011508876.1:p.Arg2756Thr | |
| XM_011510575.1:c.5864G>C | XP_011508877.1:p.Arg1955Thr | |
| XM_017003304.1:c.5864G>C | XP_016858793.1:p.Arg1955Thr | |
| XM_024452684.1:c.7049G>C | XP_024308452.1:p.Arg2350Thr | |
| NM_004369.4:c.8270G>C MANE Select | NP_004360.2:p.Arg2757Thr | |
| NM_057166.5:c.6449G>C | NP_476507.3:p.Arg2150Thr | |
| NM_057167.4:c.7652G>C | NP_476508.2:p.Arg2551Thr |