Linked Data
dbSNP Id:
rs564641413
ExAC:
5:110407611 A / G
gnomAD v2:
5-110407611-A-G
gnomAD v3:
5-111071913-A-G
gnomAD v4:
5-111071913-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.111071913A>G , CM000667.2:g.111071913A>G | GRCh38 |
| NC_000005.9:g.110407611A>G , CM000667.1:g.110407611A>G | GRCh37 |
| NC_000005.8:g.110435510A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344895.4:c.23A>G MANE Select | ENSP00000339804.3:p.Tyr8Cys | |
| ENST00000344895.3:c.23A>G | ENSP00000339804.3:p.Tyr8Cys | |
| ENST00000420978.6:c.35-12A>G | ENSP00000399099.2:n.35-12A>G | |
| NM_033035.4:c.23A>G | NP_149024.1:p.Tyr8Cys | |
| NR_045089.1:n.1439-12A>G | ||
| NM_033035.5:c.23A>G MANE Select | NP_149024.1:p.Tyr8Cys | |
| NR_045089.2:n.1457-12A>G |