Linked Data
dbSNP Id:
rs10781380
gnomAD v2:
9-79408144-T-C
gnomAD v3:
9-76793228-T-C
gnomAD v4:
9-76793228-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.76793228T>C , CM000671.2:g.76793228T>C | GRCh38 |
| NC_000009.11:g.79408144T>C , CM000671.1:g.79408144T>C | GRCh37 |
| NC_000009.10:g.78597964T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000376718.8:c.756+30404A>G MANE Select | ENSP00000365908.3:n.756+30404A>G | |
| ENST00000376713.3:c.757-4694A>G | ENSP00000365903.3:n.757-4694A>G | |
| ENST00000376718.7:c.756+30404A>G | ENSP00000365908.3:n.756+30404A>G | |
| ENST00000428286.5:c.-322+30404A>G | ENSP00000397425.1:n.-322+30404A>G | |
| ENST00000443509.6:c.756+30404A>G | ENSP00000393843.3:n.756+30404A>G | |
| NM_001308047.1:c.756+30404A>G | NP_001294976.1:n.756+30404A>G | |
| NM_001308048.1:c.756+30404A>G | NP_001294977.1:n.756+30404A>G | |
| NM_015225.2:c.756+30404A>G | NP_056040.2:n.756+30404A>G | |
| NR_131751.1:n.677+30404A>G | ||
| XM_005251745.1:c.756+30404A>G | XP_005251802.1:n.756+30404A>G | |
| XM_005251746.1:c.756+30404A>G | XP_005251803.1:n.756+30404A>G | |
| XM_005251748.1:c.756+30404A>G | XP_005251805.1:n.756+30404A>G | |
| XM_005251750.1:c.756+30404A>G | XP_005251807.1:n.756+30404A>G | |
| XM_005251751.1:c.756+30404A>G | XP_005251808.1:n.756+30404A>G | |
| XM_005251754.1:c.756+30404A>G | XP_005251811.1:n.756+30404A>G | |
| XM_006716982.1:c.756+30404A>G | XP_006717045.1:n.756+30404A>G | |
| XM_006716983.1:c.756+30404A>G | XP_006717046.1:n.756+30404A>G | |
| XM_006716984.1:c.756+30404A>G | XP_006717047.1:n.756+30404A>G | |
| XM_006716985.1:c.756+30404A>G | XP_006717048.1:n.756+30404A>G | |
| XM_006716986.1:c.756+30404A>G | XP_006717049.1:n.756+30404A>G | |
| XM_011518323.1:c.756+30404A>G | XP_011516625.1:n.756+30404A>G | |
| XM_011518324.1:c.756+30404A>G | XP_011516626.1:n.756+30404A>G | |
| XM_011518325.1:c.756+30404A>G | XP_011516627.1:n.756+30404A>G | |
| XM_011518326.1:c.756+30404A>G | XP_011516628.1:n.756+30404A>G | |
| XM_011518327.1:c.756+30404A>G | XP_011516629.1:n.756+30404A>G | |
| XM_011518328.1:c.756+30404A>G | XP_011516630.1:n.756+30404A>G | |
| XR_428517.1:n.1013+30404A>G | ||
| XM_005251754.2:c.756+30404A>G | XP_005251811.1:n.756+30404A>G | |
| XM_006716984.2:c.756+30404A>G | XP_006717047.1:n.756+30404A>G | |
| XM_011518323.2:c.756+30404A>G | XP_011516625.1:n.756+30404A>G | |
| XM_011518326.2:c.756+30404A>G | XP_011516628.1:n.756+30404A>G | |
| XM_011518328.2:c.756+30404A>G | XP_011516630.1:n.756+30404A>G | |
| XM_017014345.2:c.756+30404A>G | XP_016869834.1:n.756+30404A>G | |
| XM_017014346.1:c.756+30404A>G | XP_016869835.1:n.756+30404A>G | |
| XM_017014347.2:c.756+30404A>G | XP_016869836.1:n.756+30404A>G | |
| XM_017014348.1:c.756+30404A>G | XP_016869837.1:n.756+30404A>G | |
| XM_017014349.1:c.756+30404A>G | XP_016869838.1:n.756+30404A>G | |
| XM_017014350.1:c.756+30404A>G | XP_016869839.1:n.756+30404A>G | |
| XM_017014351.1:c.756+30404A>G | XP_016869840.1:n.756+30404A>G | |
| XM_017014352.1:c.756+30404A>G | XP_016869841.1:n.756+30404A>G | |
| XM_017014353.2:c.756+30404A>G | XP_016869842.1:n.756+30404A>G | |
| XR_001746209.2:n.1013+30404A>G | ||
| XR_001746210.2:n.1013+30404A>G | ||
| XR_001746211.2:n.1013+30404A>G | ||
| XR_428517.3:n.1013+30404A>G | ||
| NM_015225.3:c.756+30404A>G MANE Select | NP_056040.2:n.756+30404A>G | |
| NM_001308047.2:c.756+30404A>G | NP_001294976.1:n.756+30404A>G | |
| NM_001308048.2:c.756+30404A>G | NP_001294977.1:n.756+30404A>G | |
| NR_131751.2:n.704+30404A>G |