Linked Data
dbSNP Id:
rs746587793
ExAC:
12:107395195 A / G
gnomAD v2:
12-107395195-A-G
gnomAD v4:
12-107001417-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.107001417A>G , CM000674.2:g.107001417A>G | GRCh38 |
| NC_000012.11:g.107395195A>G , CM000674.1:g.107395195A>G | GRCh37 |
| NC_000012.10:g.105919325A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000008527.10:c.596-49T>C MANE Select | ENSP00000008527.5:n.596-49T>C | |
| ENST00000008527.9:c.596-49T>C | ENSP00000008527.5:n.596-49T>C | |
| ENST00000546722.1:n.89-49T>C | ||
| ENST00000552790.5:n.1155-49T>C | ||
| NM_004075.4:c.596-49T>C | NP_004066.1:n.596-49T>C | |
| XM_011537939.1:c.512-49T>C | XP_011536241.1:n.512-49T>C | |
| XM_017018832.2:c.512-49T>C | XP_016874321.1:n.512-49T>C | |
| XM_024448844.1:c.596-49T>C | XP_024304612.1:n.596-49T>C | |
| XM_024448845.1:c.512-49T>C | XP_024304613.1:n.512-49T>C | |
| NM_004075.5:c.596-49T>C MANE Select | NP_004066.1:n.596-49T>C |