Linked Data
dbSNP Id:
rs770049001
ExAC:
8:10470049 C / T
gnomAD v2:
8-10470049-C-T
gnomAD v3:
8-10612539-C-T
gnomAD v4:
8-10612539-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.10612539C>T , CM000670.2:g.10612539C>T | GRCh38 |
| NC_000008.10:g.10470049C>T , CM000670.1:g.10470049C>T | GRCh37 |
| NC_000008.9:g.10507459C>T | NCBI36 |
| NG_028035.1:g.47569G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382483.4:c.1559G>A MANE Select | ENSP00000371923.3:p.Arg520His | |
| ENST00000382483.3:c.1559G>A | ENSP00000371923.3:p.Arg520His | |
| NM_178857.5:c.1559G>A | NP_849188.4:p.Arg520His | |
| NM_178857.6:c.1559G>A MANE Select | NP_849188.4:p.Arg520His |