Linked Data
ClinVar Variation Id:
136119
dbSNP Id:
rs587780813
ExAC:
10:43623698 T / C
gnomAD v2:
10-43623698-T-C
gnomAD v3:
10-43128250-T-C
gnomAD v4:
10-43128250-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.43128250T>C , CM000672.2:g.43128250T>C | GRCh38 |
| NC_000010.10:g.43623698T>C , CM000672.1:g.43623698T>C | GRCh37 |
| NC_000010.9:g.42943704T>C | NCBI36 |
| NG_007489.1:g.56182T>C , LRG_518:g.56182T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000615310.5:c.*1496T>C | ENSP00000480088.2:n.*1496T>C | |
| ENST00000683007.1:n.4289T>C | ||
| ENST00000355710.8:c.3326T>C MANE Select | ENSP00000347942.3:p.Met1109Thr | |
| ENST00000355710.7:c.3326T>C | ENSP00000347942.3:p.Met1109Thr | |
| ENST00000615310.4:c.*675T>C | ENSP00000480088.1:n.*675T>C | |
| NM_020975.4:c.3326T>C , LRG_518t1:c.3326T>C | NP_066124.1:p.Met1109Thr | |
| XM_011540027.1:c.3326T>C | XP_011538329.1:p.Met1109Thr | |
| NM_020975.5:c.3326T>C | NP_066124.1:p.Met1109Thr | |
| NM_020975.6:c.3326T>C MANE Select | NP_066124.1:p.Met1109Thr |