Linked Data
dbSNP Id:
rs1569105577
gnomAD v2:
21-43176900-T-C
gnomAD v3:
21-41756740-T-C
gnomAD v4:
21-41756740-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.41756740T>C , CM000683.2:g.41756740T>C | GRCh38 |
| NC_000021.8:g.43176900T>C , CM000683.1:g.43176900T>C | GRCh37 |
| NC_000021.7:g.42049969T>C | NCBI36 |
| NG_032113.1:g.15350A>G | |
| NG_032113.2:g.15350A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000332512.8:c.259A>G MANE Select | ENSP00000332454.3:p.Ile87Val | |
| ENST00000332512.7:c.259A>G | ENSP00000332454.3:p.Ile87Val | |
| ENST00000352483.3:c.259A>G | ENSP00000330161.2:p.Ile87Val | |
| NM_020639.2:c.259A>G | NP_065690.2:p.Ile87Val | |
| NM_020639.3:c.259A>G MANE Select | NP_065690.2:p.Ile87Val |