Linked Data
dbSNP Id:
rs1369554000
gnomAD v2:
11-22880523-G-C
gnomAD v3:
11-22858977-G-C
gnomAD v4:
11-22858977-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.22858977G>C , CM000673.2:g.22858977G>C | GRCh38 |
| NC_000011.9:g.22880523G>C , CM000673.1:g.22880523G>C | GRCh37 |
| NC_000011.8:g.22837099G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000532798.3:c.90+475C>G (CCDC179) MANE Select | ENSP00000457511.1:n.90+475C>G | |
| ENST00000532798.2:c.90+475C>G (CCDC179) | ENSP00000457511.1:n.90+475C>G | |
| NM_001195637.1:c.90+475C>G (CCDC179) | NP_001182566.1:n.90+475C>G | |
| XM_011519802.1:c.90+475C>G (CCDC179) | XP_011518104.1:n.90+475C>G | |
| XM_011519803.1:c.90+475C>G (CCDC179) | XP_011518105.1:n.90+475C>G | |
| XM_011519804.1:c.90+475C>G (CCDC179) | XP_011518106.1:n.90+475C>G | |
| XR_931120.1:n.430+20613G>C | ||
| XR_931122.1:n.431-4936G>C | ||
| XR_931123.1:n.361+20613G>C | ||
| XM_011519802.2:c.90+475C>G (CCDC179) | XP_011518104.1:n.90+475C>G | |
| XM_011519803.2:c.90+475C>G (CCDC179) | XP_011518105.1:n.90+475C>G | |
| XR_001747829.1:n.1323+20613G>C (GAS2) | ||
| NM_001195637.2:c.90+475C>G (CCDC179) MANE Select | NP_001182566.1:n.90+475C>G |