Linked Data
ClinVar Variation Id:
322073
dbSNP Id:
rs571154058
gnomAD v2:
17-17135128-T-C
gnomAD v3:
17-17231814-T-C
gnomAD v4:
17-17231814-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.17231814T>C , CM000679.2:g.17231814T>C | GRCh38 |
| NC_000017.10:g.17135128T>C , CM000679.1:g.17135128T>C | GRCh37 |
| NC_000017.9:g.17075853T>C | NCBI36 |
| NG_008001.2:g.10375A>G , LRG_325:g.10375A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000285071.9:c.-45A>G MANE Select | ENSP00000285071.4:n.-45A>G | |
| ENST00000285071.8:c.-45A>G | ENSP00000285071.4:n.-45A>G | |
| ENST00000389169.9:c.-45A>G | ENSP00000373821.5:n.-45A>G | |
| ENST00000389171.4:n.460A>G | ||
| ENST00000417064.1:c.-27-3809A>G | ENSP00000410410.1:n.-27-3809A>G | |
| ENST00000427497.3:c.-45A>G | ENSP00000394249.3:n.-45A>G | |
| ENST00000473853.1:n.94A>G | ||
| NM_144606.5:c.-45A>G | NP_653207.1:n.-45A>G | |
| NM_144997.5:c.-45A>G , LRG_325t1:c.-45A>G | NP_659434.2:n.-45A>G | |
| XM_011523714.1:c.-45A>G | XP_011522016.1:n.-45A>G | |
| XM_011523715.1:c.-789A>G | XP_011522017.1:n.-789A>G | |
| XM_011523717.1:c.-705A>G | XP_011522019.1:n.-705A>G | |
| XM_011523718.1:c.-25+974A>G | XP_011522020.1:n.-25+974A>G | |
| XM_011523721.1:c.-25+974A>G | XP_011522023.1:n.-25+974A>G | |
| NM_001353229.1:c.-45A>G | NP_001340158.1:n.-45A>G | |
| NM_001353230.1:c.-328A>G | NP_001340159.1:n.-328A>G | |
| NM_001353231.1:c.-244A>G | NP_001340160.1:n.-244A>G | |
| NM_144606.6:c.-45A>G | NP_653207.1:n.-45A>G | |
| NM_144997.6:c.-45A>G | NP_659434.2:n.-45A>G | |
| XM_011523714.3:c.-45A>G | XP_011522016.1:n.-45A>G | |
| XM_011523718.3:c.-25+974A>G | XP_011522020.1:n.-25+974A>G | |
| XM_011523719.3:c.-45A>G | XP_011522021.1:n.-45A>G | |
| XM_011523721.3:c.-25+974A>G | XP_011522023.1:n.-25+974A>G | |
| XM_017024305.2:c.-244A>G | XP_016879794.1:n.-244A>G | |
| XM_017024308.1:c.-244A>G | XP_016879797.1:n.-244A>G | |
| XM_017024309.2:c.-45A>G | XP_016879798.1:n.-45A>G | |
| XM_024450635.1:c.-1253A>G | XP_024306403.1:n.-1253A>G | |
| XR_001752445.2:n.460A>G | ||
| NM_144997.7:c.-45A>G MANE Select | NP_659434.2:n.-45A>G | |
| NM_001353229.2:c.-45A>G | NP_001340158.1:n.-45A>G | |
| NM_001353230.2:c.-328A>G | NP_001340159.1:n.-328A>G | |
| NM_001353231.2:c.-244A>G | NP_001340160.1:n.-244A>G | |
| NM_144606.7:c.-45A>G | NP_653207.1:n.-45A>G |