Linked Data
dbSNP Id:
rs753103984
ExAC:
8:10470246 G / T
gnomAD v2:
8-10470246-G-T
gnomAD v4:
8-10612736-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.10612736G>T , CM000670.2:g.10612736G>T | GRCh38 |
| NC_000008.10:g.10470246G>T , CM000670.1:g.10470246G>T | GRCh37 |
| NC_000008.9:g.10507656G>T | NCBI36 |
| NG_028035.1:g.47372C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382483.4:c.1362C>A MANE Select | ENSP00000371923.3:p.Ser454Arg | |
| ENST00000382483.3:c.1362C>A | ENSP00000371923.3:p.Ser454Arg | |
| NM_178857.5:c.1362C>A | NP_849188.4:p.Ser454Arg | |
| NM_178857.6:c.1362C>A MANE Select | NP_849188.4:p.Ser454Arg |