Linked Data
ClinVar Variation Id:
477391
dbSNP Id:
rs774637214
ExAC:
10:43601899 A / C
gnomAD v2:
10-43601899-A-C
gnomAD v3:
10-43106451-A-C
gnomAD v4:
10-43106451-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.43106451A>C , CM000672.2:g.43106451A>C | GRCh38 |
| NC_000010.10:g.43601899A>C , CM000672.1:g.43601899A>C | GRCh37 |
| NC_000010.9:g.42921905A>C | NCBI36 |
| NG_007489.1:g.34383A>C , LRG_518:g.34383A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000615310.5:c.867+1258A>C | ENSP00000480088.2:n.867+1258A>C | |
| ENST00000683007.1:n.517A>C | ||
| ENST00000340058.6:c.943A>C | ENSP00000344798.4:p.Thr315Pro | |
| ENST00000355710.8:c.943A>C MANE Select | ENSP00000347942.3:p.Thr315Pro | |
| ENST00000671844.1:c.625+3822A>C | ENSP00000500541.1:n.625+3822A>C | |
| ENST00000672389.1:c.74-4756A>C | ENSP00000500252.1:n.74-4756A>C | |
| ENST00000340058.5:c.943A>C | ENSP00000344798.4:p.Thr315Pro | |
| ENST00000355710.7:c.943A>C | ENSP00000347942.3:p.Thr315Pro | |
| ENST00000479913.1:n.538A>C | ||
| ENST00000498820.5:c.74-5648A>C | ENSP00000419080.1:n.74-5648A>C | |
| ENST00000615310.4:c.943A>C | ENSP00000480088.1:p.Thr315Pro | |
| NM_020630.4:c.943A>C , LRG_518t2:c.943A>C | NP_065681.1:p.Thr315Pro | |
| NM_020975.4:c.943A>C , LRG_518t1:c.943A>C | NP_066124.1:p.Thr315Pro | |
| XM_011540027.1:c.943A>C | XP_011538329.1:p.Thr315Pro | |
| NM_001355216.1:c.181A>C | NP_001342145.1:p.Thr61Pro | |
| NM_020630.5:c.943A>C | NP_065681.1:p.Thr315Pro | |
| NM_020975.5:c.943A>C | NP_066124.1:p.Thr315Pro | |
| NM_020975.6:c.943A>C MANE Select | NP_066124.1:p.Thr315Pro | |
| NM_020630.6:c.943A>C | NP_065681.1:p.Thr315Pro |