Linked Data
dbSNP Id:
rs577991402
ExAC:
8:10480194 C / G
gnomAD v2:
8-10480194-C-G
gnomAD v3:
8-10622684-C-G
gnomAD v4:
8-10622684-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.10622684C>G , CM000670.2:g.10622684C>G | GRCh38 |
| NC_000008.10:g.10480194C>G , CM000670.1:g.10480194C>G | GRCh37 |
| NC_000008.9:g.10517604C>G | NCBI36 |
| NG_028035.1:g.37424G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382483.4:c.518G>C MANE Select | ENSP00000371923.3:p.Arg173Thr | |
| ENST00000329335.3:n.768G>C | ||
| ENST00000382483.3:c.518G>C | ENSP00000371923.3:p.Arg173Thr | |
| NM_178857.5:c.518G>C | NP_849188.4:p.Arg173Thr | |
| NM_178857.6:c.518G>C MANE Select | NP_849188.4:p.Arg173Thr |