Linked Data
dbSNP Id:
rs186034135
gnomAD v2:
2-20198036-T-C
gnomAD v3:
2-19998275-T-C
gnomAD v4:
2-19998275-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.19998275T>C , CM000664.2:g.19998275T>C | GRCh38 |
| NC_000002.11:g.20198036T>C , CM000664.1:g.20198036T>C | GRCh37 |
| NC_000002.10:g.20061517T>C | NCBI36 |
| NG_008087.1:g.19420A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000407540.8:c.1169-1016A>G (MATN3) MANE Select | ENSP00000383894.3:n.1169-1016A>G | |
| ENST00000407540.7:c.1169-1016A>G (MATN3) | ENSP00000383894.3:n.1169-1016A>G | |
| ENST00000421259.2:c.1043-1016A>G (MATN3) | ENSP00000398753.2:n.1043-1016A>G | |
| NM_002381.4:c.1169-1016A>G (MATN3) | NP_002372.1:n.1169-1016A>G | |
| NR_110235.1:n.292-931T>C (WDR35-DT) | ||
| NM_002381.5:c.1169-1016A>G (MATN3) MANE Select | NP_002372.1:n.1169-1016A>G |