Linked Data
dbSNP Id:
rs11066001
gnomAD v2:
12-112119171-T-C
gnomAD v3:
12-111681367-T-C
gnomAD v4:
12-111681367-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.111681367T>C , CM000674.2:g.111681367T>C | GRCh38 |
| NC_000012.11:g.112119171T>C , CM000674.1:g.112119171T>C | GRCh37 |
| NC_000012.10:g.110603554T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000419234.9:c.443+270A>G MANE Select | ENSP00000403524.3:n.443+270A>G | |
| ENST00000327551.6:c.353+270A>G | ENSP00000330813.5:n.353+270A>G | |
| ENST00000419234.8:c.443+270A>G | ENSP00000403524.3:n.443+270A>G | |
| NM_006768.4:c.443+270A>G | NP_006759.3:n.443+270A>G | |
| XM_005253944.3:c.566+270A>G | XP_005254001.1:n.566+270A>G | |
| XM_011538788.1:c.-5+1779A>G | XP_011537090.1:n.-5+1779A>G | |
| XM_011538789.1:c.-270+270A>G | XP_011537091.1:n.-270+270A>G | |
| XM_005253944.4:c.566+270A>G | XP_005254001.1:n.566+270A>G | |
| XM_011538789.3:c.-270+270A>G | XP_011537091.1:n.-270+270A>G | |
| XM_017019992.1:c.281+270A>G | XP_016875481.1:n.281+270A>G | |
| XM_017019993.1:c.-5+1779A>G | XP_016875482.1:n.-5+1779A>G | |
| XM_017019994.1:c.-4-2027A>G | XP_016875483.1:n.-4-2027A>G | |
| NM_006768.5:c.443+270A>G MANE Select | NP_006759.3:n.443+270A>G |