Linked Data
ClinVar Variation Id:
322653
dbSNP Id:
rs879075660
gnomAD v3:
17-35577365-A-G
gnomAD v4:
17-35577365-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.35577365A>G , CM000679.2:g.35577365A>G | GRCh38 |
| NC_000017.10:g.33904384A>G , CM000679.1:g.33904384A>G | GRCh37 |
| NC_000017.9:g.30928497A>G | NCBI36 |
| NG_008447.1:g.6273T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225873.9:c.353T>C MANE Select | ENSP00000225873.3:p.Met118Thr | |
| ENST00000586663.2:c.353T>C | ENSP00000466894.2:p.Met118Thr | |
| ENST00000225873.8:c.353T>C | ENSP00000225873.3:p.Met118Thr | |
| ENST00000585380.1:c.353T>C | ENSP00000466280.1:p.Met118Thr | |
| ENST00000586663.1:c.353T>C | ENSP00000466894.1:p.Met118Thr | |
| ENST00000613219.4:c.353T>C | ENSP00000482609.1:p.Met118Thr | |
| NM_000286.2:c.353T>C | NP_000277.1:p.Met118Thr | |
| NM_000286.3:c.353T>C MANE Select | NP_000277.1:p.Met118Thr |