Linked Data
dbSNP Id:
rs1388081481
gnomAD v2:
4-39448633-C-G
gnomAD v3:
4-39447013-C-G
gnomAD v4:
4-39447013-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.39447013C>G , CM000666.2:g.39447013C>G | GRCh38 |
| NC_000004.11:g.39448633C>G , CM000666.1:g.39448633C>G | GRCh37 |
| NC_000004.10:g.39125028C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000257408.5:c.2287C>G MANE Select | ENSP00000257408.4:p.Arg763Gly | |
| ENST00000257408.4:c.2287C>G | ENSP00000257408.4:p.Arg763Gly | |
| NM_175737.3:c.2287C>G | NP_783864.1:p.Arg763Gly | |
| XM_005262644.1:c.2260C>G | XP_005262701.1:p.Arg754Gly | |
| NM_175737.4:c.2287C>G MANE Select | NP_783864.1:p.Arg763Gly |