Linked Data
ClinVar Variation Id:
1424229
ClinVar RCV Id:
RCV001957131
dbSNP Id:
rs2064181817
gnomAD v4:
10-102685901-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.102685901A>G , CM000672.2:g.102685901A>G | GRCh38 |
| NC_000010.10:g.104445658A>G , CM000672.1:g.104445658A>G | GRCh37 |
| NC_000010.9:g.104435648A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260746.6:c.416T>C MANE Select | ENSP00000260746.4:p.Ile139Thr | |
| ENST00000260746.5:c.416T>C | ENSP00000260746.4:p.Ile139Thr | |
| NM_004311.3:c.416T>C | NP_004302.1:p.Ile139Thr | |
| XM_017016260.1:c.416T>C | XP_016871749.1:p.Ile139Thr | |
| NM_004311.4:c.416T>C MANE Select | NP_004302.1:p.Ile139Thr |