Linked Data
dbSNP Id:
rs1372241284
gnomAD v2:
1-149898268-C-G
gnomAD v3:
1-149926376-C-G
gnomAD v4:
1-149926376-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.149926376C>G , CM000663.2:g.149926376C>G | GRCh38 |
| NC_000001.10:g.149898268C>G , CM000663.1:g.149898268C>G | GRCh37 |
| NC_000001.9:g.148164892C>G | NCBI36 |
| NG_032777.1:g.6877G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000271628.9:c.706G>C MANE Select | ENSP00000271628.8:p.Gly236Arg | |
| ENST00000271628.8:c.706G>C | ENSP00000271628.8:p.Gly236Arg | |
| NM_005850.4:c.706G>C | NP_005841.1:p.Gly236Arg | |
| NM_005850.5:c.706G>C MANE Select | NP_005841.1:p.Gly236Arg |