Linked Data
dbSNP Id:
rs776499548
ExAC:
4:4864860 A / G
gnomAD v2:
4-4864860-A-G
gnomAD v3:
4-4863133-A-G
gnomAD v4:
4-4863133-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.4863133A>G , CM000666.2:g.4863133A>G | GRCh38 |
| NC_000004.11:g.4864860A>G , CM000666.1:g.4864860A>G | GRCh37 |
| NC_000004.10:g.4915761A>G | NCBI36 |
| NG_008121.1:g.8469A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382723.5:c.902A>G MANE Select | ENSP00000372170.4:p.His301Arg | |
| ENST00000382723.4:c.902A>G | ENSP00000372170.4:p.His301Arg | |
| NM_002448.3:c.902A>G MANE Select | NP_002439.2:p.His301Arg |