Linked Data
ClinVar Variation Id:
323158
dbSNP Id:
rs115919416
gnomAD v2:
17-39911757-C-T
gnomAD v3:
17-41755505-C-T
gnomAD v4:
17-41755505-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41755505C>T , CM000679.2:g.41755505C>T | GRCh38 |
| NC_000017.10:g.39911757C>T , CM000679.1:g.39911757C>T | GRCh37 |
| NC_000017.9:g.37165283C>T | NCBI36 |
| NG_009090.2:g.36208G>A , LRG_401:g.36208G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000393931.8:c.*239G>A MANE Select | ENSP00000377508.3:n.*239G>A | |
| ENST00000310706.9:c.*15-73G>A | ENSP00000311113.5:n.*15-73G>A | |
| ENST00000393930.5:c.*15-73G>A | ENSP00000377507.1:n.*15-73G>A | |
| ENST00000393931.7:c.*239G>A | ENSP00000377508.3:n.*239G>A | |
| NM_002230.2:c.*239G>A , LRG_401t2:c.*239G>A | NP_002221.1:n.*239G>A | |
| NM_021991.2:c.*15-73G>A , LRG_401t1:c.*15-73G>A | NP_068831.1:n.*15-73G>A | |
| XM_006721873.1:c.*15-73G>A | XP_006721936.1:n.*15-73G>A | |
| XM_006721874.1:c.*15-73G>A | XP_006721937.1:n.*15-73G>A | |
| XM_006721875.1:c.*15-73G>A | XP_006721938.1:n.*15-73G>A | |
| XM_006721878.1:c.*15-73G>A | XP_006721941.1:n.*15-73G>A | |
| XM_011524753.1:c.*15-73G>A | XP_011523055.1:n.*15-73G>A | |
| XM_011524754.1:c.*15-73G>A | XP_011523056.1:n.*15-73G>A | |
| XM_011524755.1:c.*15-73G>A | XP_011523057.1:n.*15-73G>A | |
| XM_011524756.1:c.*15-73G>A | XP_011523058.1:n.*15-73G>A | |
| XM_011524757.1:c.*15-73G>A | XP_011523059.1:n.*15-73G>A | |
| XM_011524758.1:c.*15-73G>A | XP_011523060.1:n.*15-73G>A | |
| NM_001352773.1:c.*239G>A | NP_001339702.1:n.*239G>A | |
| NM_001352774.1:c.*15-73G>A | NP_001339703.1:n.*15-73G>A | |
| NM_001352775.1:c.*15-73G>A | NP_001339704.1:n.*15-73G>A | |
| NM_001352776.1:c.*15-73G>A | NP_001339705.1:n.*15-73G>A | |
| NM_001352777.1:c.*15-73G>A | NP_001339706.1:n.*15-73G>A | |
| NM_002230.3:c.*239G>A | NP_002221.1:n.*239G>A | |
| NM_021991.3:c.*15-73G>A | NP_068831.1:n.*15-73G>A | |
| XM_006721874.3:c.*15-73G>A | XP_006721937.1:n.*15-73G>A | |
| XM_011524753.2:c.*15-73G>A | XP_011523055.1:n.*15-73G>A | |
| XM_017024588.2:c.*15-73G>A | XP_016880077.1:n.*15-73G>A | |
| XM_017024590.1:c.*15-73G>A | XP_016880079.1:n.*15-73G>A | |
| NM_002230.4:c.*239G>A MANE Select | NP_002221.1:n.*239G>A | |
| NM_001352773.2:c.*239G>A | NP_001339702.1:n.*239G>A | |
| NM_001352774.2:c.*15-73G>A | NP_001339703.1:n.*15-73G>A | |
| NM_001352775.2:c.*15-73G>A | NP_001339704.1:n.*15-73G>A | |
| NM_001352776.2:c.*15-73G>A | NP_001339705.1:n.*15-73G>A | |
| NM_001352777.2:c.*15-73G>A | NP_001339706.1:n.*15-73G>A | |
| NM_021991.4:c.*15-73G>A | NP_068831.1:n.*15-73G>A |