Linked Data
dbSNP Id:
rs1007190
gnomAD v2:
17-43038209-C-T
gnomAD v3:
17-44960841-C-T
gnomAD v4:
17-44960841-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.44960841C>T , CM000679.2:g.44960841C>T | GRCh38 |
| NC_000017.10:g.43038209C>T , CM000679.1:g.43038209C>T | GRCh37 |
| NC_000017.9:g.40393735C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000253407.4:c.598-474G>A (C1QL1) MANE Select | ENSP00000253407.2:n.598-474G>A | |
| ENST00000678938.1:c.-110+2779C>T (NMT1) | ENSP00000503621.1:n.-110+2779C>T | |
| ENST00000253407.3:c.598-474G>A (C1QL1) | ENSP00000253407.2:n.598-474G>A | |
| NM_006688.4:c.598-474G>A (C1QL1) | NP_006679.1:n.598-474G>A | |
| NM_006688.5:c.598-474G>A (C1QL1) MANE Select | NP_006679.1:n.598-474G>A |