Linked Data
dbSNP Id:
rs880028
gnomAD v2:
7-50570136-A-G
gnomAD v3:
7-50502438-A-G
gnomAD v4:
7-50502438-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.50502438A>G , CM000669.2:g.50502438A>G | GRCh38 |
| NC_000007.13:g.50570136A>G , CM000669.1:g.50570136A>G | GRCh37 |
| NC_000007.12:g.50537630A>G | NCBI36 |
| NG_008742.1:g.68019T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000444124.7:c.781+1555T>C (DDC) MANE Select | ENSP00000403644.2:n.781+1555T>C | |
| ENST00000357936.9:c.781+1555T>C (DDC) | ENSP00000350616.5:n.781+1555T>C | |
| ENST00000380984.4:c.781+1555T>C (DDC) | ENSP00000370371.4:n.781+1555T>C | |
| ENST00000426377.5:c.547+1555T>C (DDC) | ENSP00000395069.1:n.547+1555T>C | |
| ENST00000430300.5:c.423+1555T>C (DDC) | ||
| ENST00000431062.5:c.502+1555T>C (DDC) | ENSP00000399184.1:n.502+1555T>C | |
| ENST00000444124.6:c.781+1555T>C (DDC) | ENSP00000403644.2:n.781+1555T>C | |
| ENST00000444733.5:c.667+1555T>C (DDC) | ENSP00000393724.1:n.667+1555T>C | |
| ENST00000613602.3:c.-11+40080T>C (FIGNL1) | ENSP00000481751.1:n.-11+40080T>C | |
| ENST00000615193.4:c.502+1555T>C (DDC) | ENSP00000484104.1:n.502+1555T>C | |
| ENST00000617822.4:c.637+1555T>C (DDC) | ENSP00000478385.1:n.637+1555T>C | |
| ENST00000622873.4:c.667+1555T>C (DDC) | ENSP00000479110.1:n.667+1555T>C | |
| NM_000790.3:c.781+1555T>C (DDC) | NP_000781.1:n.781+1555T>C | |
| NM_001082971.1:c.781+1555T>C (DDC) | NP_001076440.1:n.781+1555T>C | |
| NM_001242886.1:c.667+1555T>C (DDC) | NP_001229815.1:n.667+1555T>C | |
| NM_001242887.1:c.637+1555T>C (DDC) | NP_001229816.1:n.637+1555T>C | |
| NM_001242888.1:c.547+1555T>C (DDC) | NP_001229817.1:n.547+1555T>C | |
| NM_001242889.1:c.502+1555T>C (DDC) | NP_001229818.1:n.502+1555T>C | |
| NM_001242890.1:c.781+1555T>C (DDC) | NP_001229819.1:n.781+1555T>C | |
| XM_005271745.3:c.667+1555T>C (DDC) | XP_005271802.1:n.667+1555T>C | |
| XM_011515161.1:c.430+1555T>C (DDC) | XP_011513463.1:n.430+1555T>C | |
| XM_005271745.4:c.667+1555T>C (DDC) | XP_005271802.1:n.667+1555T>C | |
| XM_011515161.2:c.724+1555T>C (DDC) | XP_011513463.2:n.724+1555T>C | |
| NM_001082971.2:c.781+1555T>C (DDC) MANE Select | NP_001076440.2:n.781+1555T>C | |
| NM_000790.4:c.781+1555T>C (DDC) | NP_000781.2:n.781+1555T>C | |
| NM_001242888.2:c.547+1555T>C (DDC) | NP_001229817.2:n.547+1555T>C | |
| NM_001242890.2:c.781+1555T>C (DDC) | NP_001229819.2:n.781+1555T>C | |
| NM_001242886.2:c.667+1555T>C (DDC) | NP_001229815.2:n.667+1555T>C | |
| NM_001242887.2:c.637+1555T>C (DDC) | NP_001229816.2:n.637+1555T>C | |
| NM_001242889.2:c.502+1555T>C (DDC) | NP_001229818.2:n.502+1555T>C |