Linked Data
ClinVar Variation Id:
351111
ClinVar RCV Id:
RCV000312604
dbSNP Id:
rs11242456
ExAC:
5:138609609 C / G
gnomAD v2:
5-138609609-C-G
gnomAD v3:
5-139273920-C-G
gnomAD v4:
5-139273920-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.139273920C>G , CM000667.2:g.139273920C>G | GRCh38 |
| NC_000005.9:g.138609609C>G , CM000667.1:g.138609609C>G | GRCh37 |
| NC_000005.8:g.138637508C>G | NCBI36 |
| NG_012846.1:g.4818C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000506147.5:c.-260C>G | ENSP00000423521.1:n.-260C>G | |
| ENST00000508744.1:n.466-266G>C (SIL1) | ||
| ENST00000509400.5:n.293+6648G>C (SIL1) | ||
| ENST00000509990.5:c.-528C>G | ENSP00000423533.1:n.-528C>G | |
| ENST00000512107.5:c.-477C>G | ENSP00000423695.1:n.-477C>G | |
| NM_001194954.1:c.-528C>G (MATR3) | NP_001181883.1:n.-528C>G | |
| NM_001282278.1:c.-535C>G (MATR3) | NP_001269207.1:n.-535C>G | |
| NM_199189.2:c.-610C>G (MATR3) | NP_954659.1:n.-610C>G | |
| NR_003141.3:n.169C>G (SNHG4) | ||
| NR_036536.1:n.169C>G (SNHG4) |