Linked Data
ClinVar Variation Id:
6053
dbSNP Id:
rs74315447
ExAC:
21:35742938 T / C
gnomAD v2:
21-35742938-T-C
gnomAD v3:
21-34370639-T-C
gnomAD v4:
21-34370639-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.34370639T>C , CM000683.2:g.34370639T>C | GRCh38 |
| NC_000021.8:g.35742938T>C , CM000683.1:g.35742938T>C | GRCh37 |
| NC_000021.7:g.34664808T>C | NCBI36 |
| NG_008804.1:g.11616T>C , LRG_291:g.11616T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000290310.4:c.161T>C MANE Select | ENSP00000290310.2:p.Met54Thr | |
| ENST00000290310.3:c.161T>C | ENSP00000290310.2:p.Met54Thr | |
| NM_172201.1:c.161T>C , LRG_291t1:c.161T>C | NP_751951.1:p.Met54Thr | |
| XR_937683.1:n.682A>G | ||
| XR_937684.1:n.682A>G | ||
| XR_001755012.2:n.803A>G | ||
| XR_001755013.2:n.682A>G | ||
| XR_937683.2:n.682A>G | ||
| NM_172201.2:c.161T>C MANE Select | NP_751951.1:p.Met54Thr |