Linked Data
dbSNP Id:
rs12718541
gnomAD v2:
7-50550144-A-G
gnomAD v3:
7-50482446-A-G
gnomAD v4:
7-50482446-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.50482446A>G , CM000669.2:g.50482446A>G | GRCh38 |
| NC_000007.13:g.50550144A>G , CM000669.1:g.50550144A>G | GRCh37 |
| NC_000007.12:g.50517638A>G | NCBI36 |
| NG_008742.1:g.88011T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000444124.7:c.945-2583T>C (DDC) MANE Select | ENSP00000403644.2:n.945-2583T>C | |
| ENST00000357936.9:c.945-2583T>C (DDC) | ENSP00000350616.5:n.945-2583T>C | |
| ENST00000426377.5:c.711-2583T>C (DDC) | ENSP00000395069.1:n.711-2583T>C | |
| ENST00000430300.5:c.587-2583T>C (DDC) | ||
| ENST00000431062.5:c.666-2583T>C (DDC) | ENSP00000399184.1:n.666-2583T>C | |
| ENST00000444124.6:c.945-2583T>C (DDC) | ENSP00000403644.2:n.945-2583T>C | |
| ENST00000444733.5:c.*46-2583T>C (DDC) | ENSP00000393724.1:n.*46-2583T>C | |
| ENST00000613602.3:c.-10-35149T>C (FIGNL1) | ENSP00000481751.1:n.-10-35149T>C | |
| ENST00000615193.4:c.666-2583T>C (DDC) | ENSP00000484104.1:n.666-2583T>C | |
| ENST00000617822.4:c.801-2583T>C (DDC) | ENSP00000478385.1:n.801-2583T>C | |
| ENST00000622873.4:c.831-2583T>C (DDC) | ENSP00000479110.1:n.831-2583T>C | |
| NM_000790.3:c.945-2583T>C (DDC) | NP_000781.1:n.945-2583T>C | |
| NM_001082971.1:c.945-2583T>C (DDC) | NP_001076440.1:n.945-2583T>C | |
| NM_001242886.1:c.831-2583T>C (DDC) | NP_001229815.1:n.831-2583T>C | |
| NM_001242887.1:c.801-2583T>C (DDC) | NP_001229816.1:n.801-2583T>C | |
| NM_001242888.1:c.711-2583T>C (DDC) | NP_001229817.1:n.711-2583T>C | |
| NM_001242889.1:c.666-2583T>C (DDC) | NP_001229818.1:n.666-2583T>C | |
| XM_005271745.3:c.831-2583T>C (DDC) | XP_005271802.1:n.831-2583T>C | |
| XM_011515161.1:c.594-2583T>C (DDC) | XP_011513463.1:n.594-2583T>C | |
| XM_005271745.4:c.831-2583T>C (DDC) | XP_005271802.1:n.831-2583T>C | |
| XM_011515161.2:c.888-2583T>C (DDC) | XP_011513463.2:n.888-2583T>C | |
| NM_001082971.2:c.945-2583T>C (DDC) MANE Select | NP_001076440.2:n.945-2583T>C | |
| NM_000790.4:c.945-2583T>C (DDC) | NP_000781.2:n.945-2583T>C | |
| NM_001242888.2:c.711-2583T>C (DDC) | NP_001229817.2:n.711-2583T>C | |
| NM_001242886.2:c.831-2583T>C (DDC) | NP_001229815.2:n.831-2583T>C | |
| NM_001242887.2:c.801-2583T>C (DDC) | NP_001229816.2:n.801-2583T>C | |
| NM_001242889.2:c.666-2583T>C (DDC) | NP_001229818.2:n.666-2583T>C |