Linked Data
dbSNP Id:
rs1256424577
gnomAD v2:
2-138745949-A-G
gnomAD v3:
2-137988379-A-G
gnomAD v4:
2-137988379-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.137988379A>G , CM000664.2:g.137988379A>G | GRCh38 |
| NC_000002.11:g.138745949A>G , CM000664.1:g.138745949A>G | GRCh37 |
| NC_000002.10:g.138462419A>G | NCBI36 |
| NG_012966.1:g.29142A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000280097.5:c.191-12539A>G MANE Select | ENSP00000280097.3:n.191-12539A>G | |
| ENST00000280097.4:c.191-12539A>G | ENSP00000280097.3:n.191-12539A>G | |
| ENST00000410115.5:c.191-12539A>G | ENSP00000386940.1:n.191-12539A>G | |
| ENST00000467390.5:n.203-12539A>G | ||
| ENST00000475675.5:c.*456-3437A>G | ENSP00000419415.1:n.*456-3437A>G | |
| ENST00000480534.1:n.169-186A>G | ||
| ENST00000485653.1:n.123-12539A>G | ||
| NM_006895.2:c.191-12539A>G | NP_008826.1:n.191-12539A>G | |
| XM_011511063.1:c.89-12539A>G | XP_011509365.1:n.89-12539A>G | |
| XM_011511064.1:c.-188-12539A>G | XP_011509366.1:n.-188-12539A>G | |
| XM_011511064.2:c.-188-12539A>G | XP_011509366.1:n.-188-12539A>G | |
| XM_017003948.1:c.89-12539A>G | XP_016859437.1:n.89-12539A>G | |
| XM_017003949.2:c.191-12539A>G | XP_016859438.1:n.191-12539A>G | |
| XR_001739719.1:n.1040-7700T>C | ||
| XR_002959286.1:n.578-12539A>G | ||
| NM_006895.3:c.191-12539A>G MANE Select | NP_008826.1:n.191-12539A>G |