Linked Data
dbSNP Id:
rs116348108
gnomAD v2:
5-118435127-A-G
gnomAD v3:
5-119099432-A-G
gnomAD v4:
5-119099432-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.119099432A>G , CM000667.2:g.119099432A>G | GRCh38 |
| NC_000005.9:g.118435127A>G , CM000667.1:g.118435127A>G | GRCh37 |
| NC_000005.8:g.118463026A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000539542.6:c.213+1328A>G MANE Select | ENSP00000439479.1:n.213+1328A>G | |
| ENST00000311085.8:c.213+1328A>G | ENSP00000309690.8:n.213+1328A>G | |
| ENST00000503802.5:c.213+1328A>G | ENSP00000427692.1:n.213+1328A>G | |
| ENST00000509902.5:n.352+1328A>G | ||
| ENST00000510924.1:n.378+1328A>G | ||
| ENST00000539542.5:c.213+1328A>G | ENSP00000439479.1:n.213+1328A>G | |
| NM_001290321.2:c.213+1328A>G | NP_001277250.1:n.213+1328A>G | |
| NM_001290322.2:c.-303+16A>G | NP_001277251.1:n.-303+16A>G | |
| NM_005509.5:c.213+1328A>G | NP_005500.4:n.213+1328A>G | |
| XM_005271909.3:c.213+1328A>G | XP_005271966.1:n.213+1328A>G | |
| XM_005271910.3:c.213+1328A>G | XP_005271967.1:n.213+1328A>G | |
| XM_005271912.1:c.15+1328A>G | XP_005271969.1:n.15+1328A>G | |
| XM_011543212.1:c.213+1328A>G | XP_011541514.1:n.213+1328A>G | |
| XM_011543213.1:c.213+1328A>G | XP_011541515.1:n.213+1328A>G | |
| XR_948239.1:n.436+1328A>G | ||
| NM_001349239.1:c.213+1328A>G | NP_001336168.1:n.213+1328A>G | |
| NM_001349240.1:c.213+1328A>G | NP_001336169.1:n.213+1328A>G | |
| XM_005271909.4:c.213+1328A>G | XP_005271966.1:n.213+1328A>G | |
| XM_005271910.5:c.213+1328A>G | XP_005271967.1:n.213+1328A>G | |
| XM_005271912.2:c.15+1328A>G | XP_005271969.1:n.15+1328A>G | |
| XM_011543212.2:c.213+1328A>G | XP_011541514.1:n.213+1328A>G | |
| XM_011543213.2:c.213+1328A>G | XP_011541515.1:n.213+1328A>G | |
| XM_017009143.1:c.15+1328A>G | XP_016864632.1:n.15+1328A>G | |
| XM_017009144.1:c.15+1328A>G | XP_016864633.1:n.15+1328A>G | |
| XM_017009145.1:c.15+1328A>G | XP_016864634.1:n.15+1328A>G | |
| XM_017009146.1:c.6+16A>G | XP_016864635.1:n.6+16A>G | |
| XM_017009147.1:c.213+1328A>G | XP_016864636.1:n.213+1328A>G | |
| XM_017009148.1:c.-174+1328A>G | XP_016864637.1:n.-174+1328A>G | |
| XR_001742026.2:n.739+1328A>G | ||
| XR_001742027.2:n.739+1328A>G | ||
| XR_948239.2:n.739+1328A>G | ||
| NM_001290322.3:c.-303+16A>G | NP_001277251.1:n.-303+16A>G | |
| NM_001349239.2:c.213+1328A>G | NP_001336168.1:n.213+1328A>G | |
| NM_005509.6:c.213+1328A>G | NP_005500.4:n.213+1328A>G | |
| NM_001290321.3:c.213+1328A>G MANE Select | NP_001277250.1:n.213+1328A>G | |
| NM_001349240.2:c.213+1328A>G | NP_001336169.1:n.213+1328A>G | |
| NM_001387933.1:c.213+1328A>G | NP_001374862.1:n.213+1328A>G | |
| NM_001387934.1:c.213+1328A>G | NP_001374863.1:n.213+1328A>G | |
| NM_001387937.1:c.213+1328A>G | NP_001374866.1:n.213+1328A>G | |
| NM_001387938.1:c.213+1328A>G | NP_001374867.1:n.213+1328A>G | |
| NR_170867.1:n.696+1328A>G | ||
| NR_170868.1:n.696+1328A>G | ||
| NR_170869.1:n.2008+16A>G |