Linked Data
ClinVar Variation Id:
283257
dbSNP Id:
rs141050617
ExAC:
2:238234338 T / G
gnomAD v2:
2-238234338-T-G
gnomAD v3:
2-237325695-T-G
gnomAD v4:
2-237325695-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.237325695T>G , CM000664.2:g.237325695T>G | GRCh38 |
| NC_000002.11:g.238234338T>G , CM000664.1:g.238234338T>G | GRCh37 |
| NC_000002.10:g.237899077T>G | NCBI36 |
| NG_008676.1:g.93513A>C , LRG_473:g.93513A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000347401.8:c.1739A>C | ||
| ENST00000353578.9:c.8740A>C | ENSP00000315873.4:p.Thr2914Pro | |
| ENST00000682957.1:c.1485A>C | ||
| ENST00000683348.1:c.224A>C | ENSP00000508058.1:n.224A>C | |
| ENST00000295550.9:c.9358A>C MANE Select | ENSP00000295550.4:p.Thr3120Pro | |
| ENST00000295550.8:c.9358A>C | ENSP00000295550.4:p.Thr3120Pro | |
| ENST00000347401.7:c.7534A>C | ENSP00000315609.4:p.Thr2512Pro | |
| ENST00000353578.8:c.8740A>C | ENSP00000315873.4:p.Thr2914Pro | |
| ENST00000409809.5:c.8740A>C | ENSP00000386844.1:p.Thr2914Pro | |
| ENST00000472056.5:c.7537A>C | ENSP00000418285.1:p.Thr2513Pro | |
| ENST00000473258.1:n.4486A>C | ||
| ENST00000491769.1:n.5800A>C | ||
| NM_004369.3:c.9358A>C , LRG_473t1:c.9358A>C | NP_004360.2:p.Thr3120Pro | |
| NM_057166.4:c.7537A>C | NP_476507.3:p.Thr2513Pro | |
| NM_057167.3:c.8740A>C | NP_476508.2:p.Thr2914Pro | |
| XM_005246065.1:c.8758A>C | XP_005246122.1:p.Thr2920Pro | |
| XM_005246066.1:c.8137A>C | XP_005246123.1:p.Thr2713Pro | |
| XM_006712253.1:c.8857A>C | XP_006712316.1:p.Thr2953Pro | |
| XM_011510574.1:c.9355A>C | XP_011508876.1:p.Thr3119Pro | |
| XM_011510575.1:c.6952A>C | XP_011508877.1:p.Thr2318Pro | |
| XM_017003304.1:c.6952A>C | XP_016858793.1:p.Thr2318Pro | |
| XM_024452684.1:c.8137A>C | XP_024308452.1:p.Thr2713Pro | |
| NM_004369.4:c.9358A>C MANE Select | NP_004360.2:p.Thr3120Pro | |
| NM_057166.5:c.7537A>C | NP_476507.3:p.Thr2513Pro | |
| NM_057167.4:c.8740A>C | NP_476508.2:p.Thr2914Pro |