Linked Data
dbSNP Id:
rs371380388
ExAC:
5:172659642 G / T
gnomAD v2:
5-172659642-G-T
gnomAD v4:
5-173232639-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.173232639G>T , CM000667.2:g.173232639G>T | GRCh38 |
| NC_000005.9:g.172659642G>T , CM000667.1:g.172659642G>T | GRCh37 |
| NC_000005.8:g.172592248G>T | NCBI36 |
| NG_013340.1:g.7674C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000329198.5:c.905C>A MANE Select | ENSP00000327758.4:p.Ala302Glu | |
| ENST00000329198.4:c.905C>A | ENSP00000327758.4:p.Ala302Glu | |
| NM_001166175.1:c.*858C>A | NP_001159647.1:n.*858C>A | |
| NM_001166176.1:c.*704C>A | NP_001159648.1:n.*704C>A | |
| NM_004387.3:c.905C>A | NP_004378.1:p.Ala302Glu | |
| NM_004387.4:c.905C>A MANE Select | NP_004378.1:p.Ala302Glu | |
| NM_001166175.2:c.*858C>A | NP_001159647.1:n.*858C>A | |
| NM_001166176.2:c.*704C>A | NP_001159648.1:n.*704C>A |