Linked Data
dbSNP Id:
rs766567623
gnomAD v2:
5-107400576-C-A
gnomAD v3:
5-108064875-C-A
gnomAD v4:
5-108064875-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.108064875C>A , CM000667.2:g.108064875C>A | GRCh38 |
| NC_000005.9:g.107400576C>A , CM000667.1:g.107400576C>A | GRCh37 |
| NC_000005.8:g.107428475C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000496714.2:c.754-43874G>T | ||
| ENST00000542267.7:c.1746-43874G>T MANE Select | ENSP00000437464.2:n.1746-43874G>T | |
| ENST00000359660.9:c.552-43874G>T | ENSP00000352683.4:n.552-43874G>T | |
| ENST00000481160.1:n.402-43874G>T | ||
| ENST00000496714.1:c.552-43874G>T | ENSP00000418111.1:n.552-43874G>T | |
| ENST00000542267.5:c.1746-43874G>T | ENSP00000437464.1:n.1746-43874G>T | |
| ENST00000619412.4:c.1032-43874G>T | ENSP00000481439.1:n.1032-43874G>T | |
| NM_001163315.2:c.1746-43874G>T | NP_001156787.2:n.1746-43874G>T | |
| XM_005272048.3:c.1746-43874G>T | XP_005272105.1:n.1746-43874G>T | |
| XM_011543574.1:c.1746-43874G>T | XP_011541876.1:n.1746-43874G>T | |
| XM_011543575.1:c.1746-43874G>T | XP_011541877.1:n.1746-43874G>T | |
| XM_005272048.4:c.1746-43874G>T | XP_005272105.1:n.1746-43874G>T | |
| XM_011543574.3:c.1746-43874G>T | XP_011541876.1:n.1746-43874G>T | |
| XM_011543575.2:c.1746-43874G>T | XP_011541877.1:n.1746-43874G>T | |
| NM_001163315.3:c.1746-43874G>T MANE Select | NP_001156787.2:n.1746-43874G>T |