Linked Data
ClinVar Variation Id:
322072
dbSNP Id:
rs151144873
gnomAD v2:
17-17135112-C-T
gnomAD v3:
17-17231798-C-T
gnomAD v4:
17-17231798-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.17231798C>T , CM000679.2:g.17231798C>T | GRCh38 |
| NC_000017.10:g.17135112C>T , CM000679.1:g.17135112C>T | GRCh37 |
| NC_000017.9:g.17075837C>T | NCBI36 |
| NG_008001.2:g.10391G>A , LRG_325:g.10391G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000285071.9:c.-29G>A MANE Select | ENSP00000285071.4:n.-29G>A | |
| ENST00000285071.8:c.-29G>A | ENSP00000285071.4:n.-29G>A | |
| ENST00000389169.9:c.-29G>A | ENSP00000373821.5:n.-29G>A | |
| ENST00000389171.4:n.476G>A | ||
| ENST00000417064.1:c.-27-3793G>A | ENSP00000410410.1:n.-27-3793G>A | |
| ENST00000427497.3:c.-29G>A | ENSP00000394249.3:n.-29G>A | |
| ENST00000473853.1:n.110G>A | ||
| NM_144606.5:c.-29G>A | NP_653207.1:n.-29G>A | |
| NM_144997.5:c.-29G>A , LRG_325t1:c.-29G>A | NP_659434.2:n.-29G>A | |
| XM_011523714.1:c.-29G>A | XP_011522016.1:n.-29G>A | |
| XM_011523715.1:c.-773G>A | XP_011522017.1:n.-773G>A | |
| XM_011523717.1:c.-689G>A | XP_011522019.1:n.-689G>A | |
| XM_011523718.1:c.-25+990G>A | XP_011522020.1:n.-25+990G>A | |
| XM_011523721.1:c.-25+990G>A | XP_011522023.1:n.-25+990G>A | |
| NM_001353229.1:c.-29G>A | NP_001340158.1:n.-29G>A | |
| NM_001353230.1:c.-312G>A | NP_001340159.1:n.-312G>A | |
| NM_001353231.1:c.-228G>A | NP_001340160.1:n.-228G>A | |
| NM_144606.6:c.-29G>A | NP_653207.1:n.-29G>A | |
| NM_144997.6:c.-29G>A | NP_659434.2:n.-29G>A | |
| XM_011523714.3:c.-29G>A | XP_011522016.1:n.-29G>A | |
| XM_011523718.3:c.-25+990G>A | XP_011522020.1:n.-25+990G>A | |
| XM_011523719.3:c.-29G>A | XP_011522021.1:n.-29G>A | |
| XM_011523721.3:c.-25+990G>A | XP_011522023.1:n.-25+990G>A | |
| XM_017024305.2:c.-228G>A | XP_016879794.1:n.-228G>A | |
| XM_017024308.1:c.-228G>A | XP_016879797.1:n.-228G>A | |
| XM_017024309.2:c.-29G>A | XP_016879798.1:n.-29G>A | |
| XM_024450635.1:c.-1237G>A | XP_024306403.1:n.-1237G>A | |
| XR_001752445.2:n.476G>A | ||
| NM_144997.7:c.-29G>A MANE Select | NP_659434.2:n.-29G>A | |
| NM_001353229.2:c.-29G>A | NP_001340158.1:n.-29G>A | |
| NM_001353230.2:c.-312G>A | NP_001340159.1:n.-312G>A | |
| NM_001353231.2:c.-228G>A | NP_001340160.1:n.-228G>A | |
| NM_144606.7:c.-29G>A | NP_653207.1:n.-29G>A |