Linked Data
dbSNP Id:
rs11938298
gnomAD v2:
4-144508808-C-G
gnomAD v3:
4-143587655-C-G
gnomAD v4:
4-143587655-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.143587655C>G , CM000666.2:g.143587655C>G | GRCh38 |
| NC_000004.11:g.144508808C>G , CM000666.1:g.144508808C>G | GRCh37 |
| NC_000004.10:g.144728258C>G | NCBI36 |
| NG_052820.1:g.118021G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000329798.5:c.6029-1662G>C (FREM3) MANE Select | ENSP00000332886.5:n.6029-1662G>C | |
| ENST00000511042.5:n.191+15074C>G (GUSBP5) | ||
| NM_001168235.1:c.6029-1662G>C (FREM3) | NP_001161707.1:n.6029-1662G>C | |
| NM_001168235.2:c.6029-1662G>C (FREM3) MANE Select | NP_001161707.1:n.6029-1662G>C |