Linked Data
dbSNP Id:
rs750407288
gnomAD v2:
20-23028443-G-C
gnomAD v3:
20-23047806-G-C
gnomAD v4:
20-23047806-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.23047806G>C , CM000682.2:g.23047806G>C | GRCh38 |
| NC_000020.10:g.23028443G>C , CM000682.1:g.23028443G>C | GRCh37 |
| NC_000020.9:g.22976443G>C | NCBI36 |
| NG_012027.1:g.6859C>G , LRG_168:g.6859C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377103.3:c.1699C>G MANE Select | ENSP00000366307.2:p.Arg567Gly | |
| ENST00000377103.2:c.1699C>G | ENSP00000366307.2:p.Arg567Gly | |
| NM_000361.2:c.1699C>G , LRG_168t1:c.1699C>G | NP_000352.1:p.Arg567Gly | |
| NM_000361.3:c.1699C>G MANE Select | NP_000352.1:p.Arg567Gly |