Linked Data
dbSNP Id:
rs1265943880
gnomAD v2:
10-75842121-T-G
gnomAD v3:
10-74082363-T-G
gnomAD v4:
10-74082363-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.74082363T>G , CM000672.2:g.74082363T>G | GRCh38 |
| NC_000010.10:g.75842121T>G , CM000672.1:g.75842121T>G | GRCh37 |
| NC_000010.9:g.75512127T>G | NCBI36 |
| NG_008868.1:g.89250T>G , LRG_383:g.89250T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000211998.10:c.784-91T>G MANE Select | ENSP00000211998.5:n.784-91T>G | |
| ENST00000211998.8:c.784-91T>G | ENSP00000211998.4:n.784-91T>G | |
| ENST00000372755.7:c.784-91T>G | ENSP00000361841.3:n.784-91T>G | |
| ENST00000478896.2:n.332-18691T>G | ||
| ENST00000623461.3:n.3587-91T>G | ||
| ENST00000624354.3:c.*539-91T>G | ENSP00000485551.1:n.*539-91T>G | |
| NM_003373.3:c.784-91T>G | NP_003364.1:n.784-91T>G | |
| NM_014000.2:c.784-91T>G , LRG_383t1:c.784-91T>G | NP_054706.1:n.784-91T>G | |
| XM_005270142.1:c.784-88T>G | XP_005270199.1:n.784-88T>G | |
| XM_005270143.1:c.784-88T>G | XP_005270200.1:n.784-88T>G | |
| XR_001747501.1:n.90-4636A>C | ||
| NM_003373.4:c.784-91T>G | NP_003364.1:n.784-91T>G | |
| NM_014000.3:c.784-91T>G MANE Select | NP_054706.1:n.784-91T>G |