Linked Data
ClinVar Variation Id:
362043
dbSNP Id:
rs886062716
gnomAD v2:
8-134309363-G-C
gnomAD v3:
8-133297120-G-C
gnomAD v4:
8-133297120-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.133297120G>C , CM000670.2:g.133297120G>C | GRCh38 |
| NC_000008.10:g.134309363G>C , CM000670.1:g.134309363G>C | GRCh37 |
| NC_000008.9:g.134378545G>C | NCBI36 |
| NG_007943.1:g.5136C>G , LRG_258:g.5136C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000323851.13:c.-19+14C>G MANE Select | ENSP00000319977.8:n.-19+14C>G | |
| ENST00000674605.1:c.-51+14C>G | ENSP00000501650.1:n.-51+14C>G | |
| ENST00000674804.1:c.-19+923C>G | ENSP00000502656.1:n.-19+923C>G | |
| ENST00000323851.11:c.-19+14C>G | ENSP00000319977.7:n.-19+14C>G | |
| ENST00000414097.6:c.-402C>G | ENSP00000404854.2:n.-402C>G | |
| ENST00000517599.5:c.-19+14C>G | ENSP00000429172.1:n.-19+14C>G | |
| ENST00000518010.5:n.119+14C>G | ||
| ENST00000518066.5:c.-19+14C>G | ENSP00000431057.1:n.-19+14C>G | |
| ENST00000518176.5:c.-19+14C>G | ENSP00000429007.1:n.-19+14C>G | |
| ENST00000518480.5:c.-136+14C>G | ENSP00000428802.1:n.-136+14C>G | |
| ENST00000519228.5:c.-19+623C>G | ENSP00000429994.1:n.-19+623C>G | |
| ENST00000520230.5:c.33+4868C>G | ENSP00000428345.1:n.33+4868C>G | |
| ENST00000520943.5:c.15+1258C>G | ENSP00000429840.1:n.15+1258C>G | |
| ENST00000521544.5:c.-191+14C>G | ENSP00000429524.1:n.-191+14C>G | |
| ENST00000522377.5:c.-19+14C>G | ENSP00000429380.1:n.-19+14C>G | |
| ENST00000522476.5:c.-100+14C>G | ENSP00000427894.1:n.-100+14C>G | |
| ENST00000523892.5:c.-312+14C>G | ENSP00000430171.1:n.-312+14C>G | |
| ENST00000537882.2:c.-156+14C>G | ENSP00000437443.1:n.-156+14C>G | |
| NM_001135242.1:c.-402C>G | NP_001128714.1:n.-402C>G | |
| NM_001258432.1:c.-100+14C>G | NP_001245361.1:n.-100+14C>G | |
| NM_001258433.1:c.-156+14C>G | NP_001245362.1:n.-156+14C>G | |
| NM_006096.3:c.-19+14C>G , LRG_258t1:c.-19+14C>G | NP_006087.2:n.-19+14C>G | |
| XM_011516791.1:c.-19+14C>G | XP_011515093.1:n.-19+14C>G | |
| NM_001135242.2:c.-402C>G | NP_001128714.1:n.-402C>G | |
| NM_001258432.2:c.-100+14C>G | NP_001245361.1:n.-100+14C>G | |
| NM_001258433.2:c.-156+14C>G | NP_001245362.1:n.-156+14C>G | |
| NM_001374844.1:c.-19+14C>G | NP_001361773.1:n.-19+14C>G | |
| NM_001374845.1:c.-135C>G | NP_001361774.1:n.-135C>G | |
| NM_001374847.1:c.-136+14C>G | NP_001361776.1:n.-136+14C>G | |
| NM_006096.4:c.-19+14C>G MANE Select | NP_006087.2:n.-19+14C>G |