Linked Data
dbSNP Id:
rs114133078
gnomAD v2:
4-15354385-T-C
gnomAD v3:
4-15352761-T-C
gnomAD v4:
4-15352761-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.15352761T>C , CM000666.2:g.15352761T>C | GRCh38 |
| NC_000004.11:g.15354385T>C , CM000666.1:g.15354385T>C | GRCh37 |
| NC_000004.10:g.14963483T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000295297.4:c.13+12554T>C (C1QTNF7) | ENSP00000295297.4:n.13+12554T>C | |
| ENST00000397700.6:c.13+12554T>C (C1QTNF7) | ENSP00000380812.2:n.13+12554T>C | |
| ENST00000510958.1:n.201+12554T>C (C1QTNF7) | ||
| ENST00000512144.1:n.220+12554T>C (C1QTNF7) | ||
| NM_001135170.1:c.13+12554T>C (C1QTNF7) | NP_001128642.1:n.13+12554T>C | |
| NR_125911.1:n.86+75068A>G (C1QTNF7-AS1) | ||
| XM_011513772.1:c.13+12554T>C (C1QTNF7) | XP_011512074.1:n.13+12554T>C | |
| NM_001135170.2:c.13+12554T>C (C1QTNF7) | NP_001128642.1:n.13+12554T>C |