Linked Data
dbSNP Id:
rs1362204548
gnomAD v2:
19-18499556-C-A
gnomAD v3:
19-18388746-C-A
gnomAD v4:
19-18388746-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.18388746C>A , CM000681.2:g.18388746C>A | GRCh38 |
| NC_000019.9:g.18499556C>A , CM000681.1:g.18499556C>A | GRCh37 |
| NC_000019.8:g.18360556C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000595973.3:c.738C>A | ENSP00000470531.3:p.Ser246Arg | |
| ENST00000597765.2:c.738C>A | ENSP00000469819.2:p.Ser246Arg | |
| ENST00000252809.3:c.738C>A MANE Select | ENSP00000252809.3:p.Ser246Arg | |
| NM_004864.2:c.738C>A | NP_004855.2:p.Ser246Arg | |
| NM_004864.3:c.738C>A | NP_004855.2:p.Ser246Arg | |
| XM_024451789.1:c.738C>A | XP_024307557.1:p.Ser246Arg | |
| NM_004864.4:c.738C>A MANE Select | NP_004855.2:p.Ser246Arg |