Linked Data
gnomAD v2:
12-6952108-G-C
gnomAD v4:
12-6842944-G-C
MyVariant Identifiers:
chr12:g.6952108_6952110delinsCAT (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6842944G>C , CM000674.2:g.6842944G>C | GRCh38 |
| NC_000012.11:g.6952108G>C , CM000674.1:g.6952108G>C | GRCh37 |
| NC_000012.10:g.6822369G>C | NCBI36 |
| NG_009100.1:g.7734G>C | |
| NG_009100.2:g.7734G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000229264.8:c.97-26G>C MANE Select | ENSP00000229264.3:n.97-26G>C | |
| ENST00000675241.1:c.97-26G>C | ENSP00000501677.1:n.97-26G>C | |
| ENST00000229264.7:c.97-26G>C | ENSP00000229264.3:n.97-26G>C | |
| ENST00000435982.6:c.97-26G>C | ENSP00000414734.2:n.97-26G>C | |
| ENST00000537035.1:c.97-26G>C | ENSP00000445967.1:n.97-26G>C | |
| ENST00000539127.5:c.*117-26G>C | ENSP00000444325.1:n.*117-26G>C | |
| ENST00000540458.5:n.1448-26G>C | ||
| ENST00000541257.5:c.97-26G>C | ENSP00000442002.1:n.97-26G>C | |
| ENST00000541978.5:c.97-26G>C | ENSP00000439753.2:n.97-26G>C | |
| ENST00000542868.1:n.585-26G>C | ||
| NM_001297571.1:c.97-26G>C | NP_001284500.1:n.97-26G>C | |
| NM_002075.3:c.97-26G>C | NP_002066.1:n.97-26G>C | |
| XM_011520953.1:c.97-26G>C | XP_011519255.1:n.97-26G>C | |
| XM_011520954.1:c.97-26G>C | XP_011519256.1:n.97-26G>C | |
| XM_011520953.3:c.97-26G>C | XP_011519255.1:n.97-26G>C | |
| NM_001297571.2:c.97-26G>C | NP_001284500.1:n.97-26G>C | |
| NM_002075.4:c.97-26G>C MANE Select | NP_002066.1:n.97-26G>C |