Linked Data
ClinVar Variation Id:
282891
dbSNP Id:
rs148183839
ExAC:
2:238233427 A / G
gnomAD v2:
2-238233427-A-G
gnomAD v3:
2-237324784-A-G
gnomAD v4:
2-237324784-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.237324784A>G , CM000664.2:g.237324784A>G | GRCh38 |
| NC_000002.11:g.238233427A>G , CM000664.1:g.238233427A>G | GRCh37 |
| NC_000002.10:g.237898166A>G | NCBI36 |
| NG_008676.1:g.94424T>C , LRG_473:g.94424T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000347401.8:c.1905T>C | ||
| ENST00000353578.9:c.8906T>C | ENSP00000315873.4:p.Met2969Thr | |
| ENST00000682957.1:c.1651T>C | ||
| ENST00000683348.1:c.390T>C | ENSP00000508058.1:n.390T>C | |
| ENST00000295550.9:c.9524T>C MANE Select | ENSP00000295550.4:p.Met3175Thr | |
| ENST00000295550.8:c.9524T>C | ENSP00000295550.4:p.Met3175Thr | |
| ENST00000347401.7:c.7700T>C | ENSP00000315609.4:p.Met2567Thr | |
| ENST00000353578.8:c.8906T>C | ENSP00000315873.4:p.Met2969Thr | |
| ENST00000409809.5:c.8906T>C | ENSP00000386844.1:p.Met2969Thr | |
| ENST00000472056.5:c.7703T>C | ENSP00000418285.1:p.Met2568Thr | |
| ENST00000473258.1:n.4652T>C | ||
| ENST00000491769.1:n.5966T>C | ||
| NM_004369.3:c.9524T>C , LRG_473t1:c.9524T>C | NP_004360.2:p.Met3175Thr | |
| NM_057166.4:c.7703T>C | NP_476507.3:p.Met2568Thr | |
| NM_057167.3:c.8906T>C | NP_476508.2:p.Met2969Thr | |
| XM_005246065.1:c.8924T>C | XP_005246122.1:p.Met2975Thr | |
| XM_005246066.1:c.8303T>C | XP_005246123.1:p.Met2768Thr | |
| XM_006712253.1:c.9023T>C | XP_006712316.1:p.Met3008Thr | |
| XM_011510574.1:c.9521T>C | XP_011508876.1:p.Met3174Thr | |
| XM_011510575.1:c.7118T>C | XP_011508877.1:p.Met2373Thr | |
| XM_017003304.1:c.7118T>C | XP_016858793.1:p.Met2373Thr | |
| XM_024452684.1:c.8303T>C | XP_024308452.1:p.Met2768Thr | |
| NM_004369.4:c.9524T>C MANE Select | NP_004360.2:p.Met3175Thr | |
| NM_057166.5:c.7703T>C | NP_476507.3:p.Met2568Thr | |
| NM_057167.4:c.8906T>C | NP_476508.2:p.Met2969Thr |