Linked Data
ClinVar Variation Id:
2179391
ClinVar RCV Id:
RCV002591949
dbSNP Id:
rs766802308
ExAC:
11:22646674 T / G
gnomAD v2:
11-22646674-T-G
gnomAD v3:
11-22625128-T-G
gnomAD v4:
11-22625128-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.22625128T>G , CM000673.2:g.22625128T>G | GRCh38 |
| NC_000011.9:g.22646674T>G , CM000673.1:g.22646674T>G | GRCh37 |
| NC_000011.8:g.22603250T>G | NCBI36 |
| NG_007425.1:g.5714A>C , LRG_527:g.5714A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000327470.6:c.683A>C MANE Select | ENSP00000330875.3:p.Lys228Thr | |
| ENST00000327470.4:c.683A>C | ENSP00000330875.3:p.Lys228Thr | |
| NM_022725.3:c.683A>C , LRG_527t1:c.683A>C | NP_073562.1:p.Lys228Thr | |
| NM_022725.4:c.683A>C MANE Select | NP_073562.1:p.Lys228Thr |