Linked Data
dbSNP Id:
rs1112714
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.143582494G>C , CM000666.2:g.143582494G>C | GRCh38 |
| NC_000004.11:g.144503647G>C , CM000666.1:g.144503647G>C | GRCh37 |
| NC_000004.10:g.144723097G>C | NCBI36 |
| NG_052820.1:g.123182C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000329798.5:c.6178+3350C>G (FREM3) MANE Select | ENSP00000332886.5:n.6178+3350C>G | |
| ENST00000511042.5:n.191+9913G>C (GUSBP5) | ||
| NM_001168235.1:c.6178+3350C>G (FREM3) | NP_001161707.1:n.6178+3350C>G | |
| NM_001168235.2:c.6178+3350C>G (FREM3) MANE Select | NP_001161707.1:n.6178+3350C>G |