Linked Data
dbSNP Id:
rs777466417
ExAC:
5:151231035 A / G
gnomAD v2:
5-151231035-A-G
gnomAD v4:
5-151851474-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.151851474A>G , CM000667.2:g.151851474A>G | GRCh38 |
| NC_000005.9:g.151231035A>G , CM000667.1:g.151231035A>G | GRCh37 |
| NC_000005.8:g.151211228A>G | NCBI36 |
| NG_011764.1:g.78363T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000274576.9:c.828T>C MANE Select | ENSP00000274576.5:p.Ala276= | |
| ENST00000274576.8:c.828T>C | ENSP00000274576.4:p.Ala276= | |
| ENST00000455880.2:c.828T>C | ENSP00000411593.2:p.Ala276= | |
| ENST00000462581.6:c.*586T>C | ENSP00000430595.1:n.*586T>C | |
| ENST00000471351.2:n.1111T>C | ||
| NM_000171.3:c.828T>C | NP_000162.2:p.Ala276= | |
| NM_001146040.1:c.828T>C | NP_001139512.1:p.Ala276= | |
| NM_001292000.1:c.579T>C | NP_001278929.1:p.Ala193= | |
| XM_005268412.2:c.828T>C | XP_005268469.1:p.Ala276= | |
| NM_000171.4:c.828T>C MANE Select | NP_000162.2:p.Ala276= | |
| NM_001146040.2:c.828T>C | NP_001139512.1:p.Ala276= | |
| NM_001292000.2:c.579T>C | NP_001278929.1:p.Ala193= |