Linked Data
dbSNP Id:
rs781809516
ExAC:
7:73097299 C / G
gnomAD v2:
7-73097299-C-G
gnomAD v4:
7-73682969-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.73682969C>G , CM000669.2:g.73682969C>G | GRCh38 |
| NC_000007.13:g.73097299C>G , CM000669.1:g.73097299C>G | GRCh37 |
| NC_000007.12:g.72735235C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000395176.3:c.455G>C MANE Select | ENSP00000378605.1:p.Arg152Pro | |
| ENST00000395176.2:c.455G>C | ENSP00000378605.1:p.Arg152Pro | |
| NM_032317.2:c.455G>C | NP_115693.2:p.Arg152Pro | |
| NM_032317.3:c.455G>C MANE Select | NP_115693.2:p.Arg152Pro |