Linked Data
dbSNP Id:
rs1321479844
gnomAD v2:
2-20198164-A-G
gnomAD v3:
2-19998403-A-G
gnomAD v4:
2-19998403-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.19998403A>G , CM000664.2:g.19998403A>G | GRCh38 |
| NC_000002.11:g.20198164A>G , CM000664.1:g.20198164A>G | GRCh37 |
| NC_000002.10:g.20061645A>G | NCBI36 |
| NG_008087.1:g.19292T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000407540.8:c.1169-1144T>C (MATN3) MANE Select | ENSP00000383894.3:n.1169-1144T>C | |
| ENST00000407540.7:c.1169-1144T>C (MATN3) | ENSP00000383894.3:n.1169-1144T>C | |
| ENST00000421259.2:c.1043-1144T>C (MATN3) | ENSP00000398753.2:n.1043-1144T>C | |
| NM_002381.4:c.1169-1144T>C (MATN3) | NP_002372.1:n.1169-1144T>C | |
| NR_110235.1:n.292-803A>G (WDR35-DT) | ||
| NM_002381.5:c.1169-1144T>C (MATN3) MANE Select | NP_002372.1:n.1169-1144T>C |