Linked Data
ClinVar Variation Id:
351110
ClinVar RCV Id:
RCV000399702
dbSNP Id:
rs765907489
ExAC:
5:138609576 A / G
gnomAD v2:
5-138609576-A-G
gnomAD v4:
5-139273887-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.139273887A>G , CM000667.2:g.139273887A>G | GRCh38 |
| NC_000005.9:g.138609576A>G , CM000667.1:g.138609576A>G | GRCh37 |
| NC_000005.8:g.138637475A>G | NCBI36 |
| NG_012846.1:g.4785A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000506147.5:c.-293A>G | ENSP00000423521.1:n.-293A>G | |
| ENST00000508744.1:n.466-233T>C (SIL1) | ||
| ENST00000509400.5:n.293+6681T>C (SIL1) | ||
| ENST00000509990.5:c.-561A>G | ENSP00000423533.1:n.-561A>G | |
| ENST00000512107.5:c.-510A>G | ENSP00000423695.1:n.-510A>G | |
| NM_001194954.1:c.-561A>G (MATR3) | NP_001181883.1:n.-561A>G | |
| NM_001282278.1:c.-568A>G (MATR3) | NP_001269207.1:n.-568A>G | |
| NM_199189.2:c.-643A>G (MATR3) | NP_954659.1:n.-643A>G | |
| NR_003141.3:n.136A>G (SNHG4) | ||
| NR_036536.1:n.136A>G (SNHG4) |