Linked Data
ClinVar Variation Id:
285481
dbSNP Id:
rs2270668
ExAC:
2:238243481 T / C
gnomAD v2:
2-238243481-T-C
gnomAD v3:
2-237334838-T-C
gnomAD v4:
2-237334838-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.237334838T>C , CM000664.2:g.237334838T>C | GRCh38 |
| NC_000002.11:g.238243481T>C , CM000664.1:g.238243481T>C | GRCh37 |
| NC_000002.10:g.237908220T>C | NCBI36 |
| NG_008676.1:g.84370A>G , LRG_473:g.84370A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000347401.8:c.1611-1290A>G | ||
| ENST00000353578.9:c.8399A>G | ENSP00000315873.4:p.Lys2800Arg | |
| ENST00000682957.1:c.1144A>G | ||
| ENST00000295550.9:c.9017A>G MANE Select | ENSP00000295550.4:p.Lys3006Arg | |
| ENST00000295550.8:c.9017A>G | ENSP00000295550.4:p.Lys3006Arg | |
| ENST00000347401.7:c.7193A>G | ENSP00000315609.4:p.Lys2398Arg | |
| ENST00000353578.8:c.8399A>G | ENSP00000315873.4:p.Lys2800Arg | |
| ENST00000409809.5:c.8399A>G | ENSP00000386844.1:p.Lys2800Arg | |
| ENST00000472056.5:c.7196A>G | ENSP00000418285.1:p.Lys2399Arg | |
| ENST00000491769.1:n.5459A>G | ||
| NM_004369.3:c.9017A>G , LRG_473t1:c.9017A>G | NP_004360.2:p.Lys3006Arg | |
| NM_057166.4:c.7196A>G | NP_476507.3:p.Lys2399Arg | |
| NM_057167.3:c.8399A>G | NP_476508.2:p.Lys2800Arg | |
| XM_005246065.1:c.8417A>G | XP_005246122.1:p.Lys2806Arg | |
| XM_005246066.1:c.7796A>G | XP_005246123.1:p.Lys2599Arg | |
| XM_006712253.1:c.8516A>G | XP_006712316.1:p.Lys2839Arg | |
| XM_011510574.1:c.9014A>G | XP_011508876.1:p.Lys3005Arg | |
| XM_011510575.1:c.6611A>G | XP_011508877.1:p.Lys2204Arg | |
| XM_017003304.1:c.6611A>G | XP_016858793.1:p.Lys2204Arg | |
| XM_024452684.1:c.7796A>G | XP_024308452.1:p.Lys2599Arg | |
| NM_004369.4:c.9017A>G MANE Select | NP_004360.2:p.Lys3006Arg | |
| NM_057166.5:c.7196A>G | NP_476507.3:p.Lys2399Arg | |
| NM_057167.4:c.8399A>G | NP_476508.2:p.Lys2800Arg |