Linked Data
dbSNP Id:
rs1752908964
gnomAD v3:
5-151851477-A-G
gnomAD v4:
5-151851477-A-G
MyVariant Identifiers:
chr5:g.151231038A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.151851477A>G , CM000667.2:g.151851477A>G | GRCh38 |
| NC_000005.9:g.151231038A>G , CM000667.1:g.151231038A>G | GRCh37 |
| NC_000005.8:g.151211231A>G | NCBI36 |
| NG_011764.1:g.78360T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000274576.9:c.825T>C MANE Select | ENSP00000274576.5:p.Asp275= | |
| ENST00000274576.8:c.825T>C | ENSP00000274576.4:p.Asp275= | |
| ENST00000455880.2:c.825T>C | ENSP00000411593.2:p.Asp275= | |
| ENST00000462581.6:c.*583T>C | ENSP00000430595.1:n.*583T>C | |
| ENST00000471351.2:n.1108T>C | ||
| NM_000171.3:c.825T>C | NP_000162.2:p.Asp275= | |
| NM_001146040.1:c.825T>C | NP_001139512.1:p.Asp275= | |
| NM_001292000.1:c.576T>C | NP_001278929.1:p.Asp192= | |
| XM_005268412.2:c.825T>C | XP_005268469.1:p.Asp275= | |
| NM_000171.4:c.825T>C MANE Select | NP_000162.2:p.Asp275= | |
| NM_001146040.2:c.825T>C | NP_001139512.1:p.Asp275= | |
| NM_001292000.2:c.576T>C | NP_001278929.1:p.Asp192= |