Linked Data
dbSNP Id:
rs17013181
ExAC:
4:88732763 A / G
gnomAD v2:
4-88732763-A-G
gnomAD v3:
4-87811611-A-G
gnomAD v4:
4-87811611-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.87811611A>G , CM000666.2:g.87811611A>G | GRCh38 |
| NC_000004.11:g.88732763A>G , CM000666.1:g.88732763A>G | GRCh37 |
| NC_000004.10:g.88951787A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000226284.7:c.655A>G MANE Select | ENSP00000226284.5:p.Arg219Gly | |
| ENST00000226284.6:c.655A>G | ENSP00000226284.5:p.Arg219Gly | |
| NM_004967.3:c.655A>G | NP_004958.2:p.Arg219Gly | |
| NM_004967.4:c.655A>G MANE Select | NP_004958.2:p.Arg219Gly |