Linked Data
dbSNP Id:
rs755743152
ExAC:
7:50563149 T / G
gnomAD v2:
7-50563149-T-G
gnomAD v4:
7-50495451-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.50495451T>G , CM000669.2:g.50495451T>G | GRCh38 |
| NC_000007.13:g.50563149T>G , CM000669.1:g.50563149T>G | GRCh37 |
| NC_000007.12:g.50530643T>G | NCBI36 |
| NG_008742.1:g.75006A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000444124.7:c.877-34A>C (DDC) MANE Select | ENSP00000403644.2:n.877-34A>C | |
| ENST00000357936.9:c.877-34A>C (DDC) | ENSP00000350616.5:n.877-34A>C | |
| ENST00000380984.4:c.877-34A>C (DDC) | ENSP00000370371.4:n.877-34A>C | |
| ENST00000426377.5:c.643-34A>C (DDC) | ENSP00000395069.1:n.643-34A>C | |
| ENST00000430300.5:c.519-34A>C (DDC) | ||
| ENST00000431062.5:c.598-34A>C (DDC) | ENSP00000399184.1:n.598-34A>C | |
| ENST00000444124.6:c.877-34A>C (DDC) | ENSP00000403644.2:n.877-34A>C | |
| ENST00000444733.5:c.668-34A>C (DDC) | ENSP00000393724.1:n.668-34A>C | |
| ENST00000613602.3:c.-11+47067A>C (FIGNL1) | ENSP00000481751.1:n.-11+47067A>C | |
| ENST00000615193.4:c.598-34A>C (DDC) | ENSP00000484104.1:n.598-34A>C | |
| ENST00000617822.4:c.733-34A>C (DDC) | ENSP00000478385.1:n.733-34A>C | |
| ENST00000622873.4:c.763-34A>C (DDC) | ENSP00000479110.1:n.763-34A>C | |
| NM_000790.3:c.877-34A>C (DDC) | NP_000781.1:n.877-34A>C | |
| NM_001082971.1:c.877-34A>C (DDC) | NP_001076440.1:n.877-34A>C | |
| NM_001242886.1:c.763-34A>C (DDC) | NP_001229815.1:n.763-34A>C | |
| NM_001242887.1:c.733-34A>C (DDC) | NP_001229816.1:n.733-34A>C | |
| NM_001242888.1:c.643-34A>C (DDC) | NP_001229817.1:n.643-34A>C | |
| NM_001242889.1:c.598-34A>C (DDC) | NP_001229818.1:n.598-34A>C | |
| NM_001242890.1:c.877-34A>C (DDC) | NP_001229819.1:n.877-34A>C | |
| XM_005271745.3:c.763-34A>C (DDC) | XP_005271802.1:n.763-34A>C | |
| XM_011515161.1:c.526-34A>C (DDC) | XP_011513463.1:n.526-34A>C | |
| XM_005271745.4:c.763-34A>C (DDC) | XP_005271802.1:n.763-34A>C | |
| XM_011515161.2:c.820-34A>C (DDC) | XP_011513463.2:n.820-34A>C | |
| NM_001082971.2:c.877-34A>C (DDC) MANE Select | NP_001076440.2:n.877-34A>C | |
| NM_000790.4:c.877-34A>C (DDC) | NP_000781.2:n.877-34A>C | |
| NM_001242888.2:c.643-34A>C (DDC) | NP_001229817.2:n.643-34A>C | |
| NM_001242890.2:c.877-34A>C (DDC) | NP_001229819.2:n.877-34A>C | |
| NM_001242886.2:c.763-34A>C (DDC) | NP_001229815.2:n.763-34A>C | |
| NM_001242887.2:c.733-34A>C (DDC) | NP_001229816.2:n.733-34A>C | |
| NM_001242889.2:c.598-34A>C (DDC) | NP_001229818.2:n.598-34A>C |