Linked Data
ClinVar Variation Id:
402814
ClinVar RCV Id:
RCV000455339
dbSNP Id:
rs3821091
ExAC:
2:172582112 T / G
gnomAD v2:
2-172582112-T-G
gnomAD v3:
2-171725602-T-G
gnomAD v4:
2-171725602-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.171725602T>G , CM000664.2:g.171725602T>G | GRCh38 |
| NC_000002.11:g.172582112T>G , CM000664.1:g.172582112T>G | GRCh37 |
| NC_000002.10:g.172290358T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000397119.8:c.512-16T>G MANE Select | ENSP00000380308.3:n.512-16T>G | |
| ENST00000340296.8:c.434-16T>G | ENSP00000339430.4:n.434-16T>G | |
| ENST00000397119.7:c.512-16T>G | ENSP00000380308.3:n.512-16T>G | |
| ENST00000409197.5:c.434-16T>G | ENSP00000386397.1:n.434-16T>G | |
| ENST00000409317.5:c.494-16T>G | ENSP00000386591.1:n.494-16T>G | |
| ENST00000409453.5:c.512-16T>G | ENSP00000386886.1:n.512-16T>G | |
| ENST00000409773.5:c.512-16T>G | ENSP00000386415.1:n.512-16T>G | |
| ENST00000410079.7:c.488-16T>G | ENSP00000386522.3:n.488-16T>G | |
| ENST00000422646.1:c.494-16T>G | ENSP00000403089.1:n.494-16T>G | |
| ENST00000423910.5:c.488-16T>G | ENSP00000397654.1:n.488-16T>G | |
| ENST00000425485.5:c.434-16T>G | ENSP00000394492.1:n.434-16T>G | |
| ENST00000435234.5:c.434-16T>G | ENSP00000410807.1:n.434-16T>G | |
| ENST00000438879.5:c.548-16T>G | ENSP00000392741.1:n.548-16T>G | |
| ENST00000445378.5:c.343-16T>G | ENSP00000415410.1:n.343-16T>G | |
| ENST00000452242.5:c.494-16T>G | ENSP00000398765.1:n.494-16T>G | |
| ENST00000456808.5:c.488-16T>G | ENSP00000388699.1:n.488-16T>G | |
| ENST00000470286.1:n.55-16T>G | ||
| ENST00000482454.5:n.665-16T>G | ||
| ENST00000508530.5:c.434-16T>G | ENSP00000423339.1:n.434-16T>G | |
| NM_001271785.1:c.512-16T>G | NP_001258714.1:n.512-16T>G | |
| NM_001271786.1:c.488-16T>G | NP_001258715.1:n.488-16T>G | |
| NM_001271787.1:c.488-16T>G | NP_001258716.1:n.488-16T>G | |
| NM_001271788.1:c.434-16T>G | NP_001258717.1:n.434-16T>G | |
| NM_001271789.1:c.434-16T>G | NP_001258718.1:n.434-16T>G | |
| NM_001271790.1:c.434-16T>G | NP_001258719.1:n.434-16T>G | |
| NM_001378.2:c.512-16T>G | NP_001369.1:n.512-16T>G | |
| XM_005246363.3:c.548-16T>G | XP_005246420.1:n.548-16T>G | |
| XM_005246364.2:c.548-16T>G | XP_005246421.1:n.548-16T>G | |
| XM_005246365.3:c.548-16T>G | XP_005246422.1:n.548-16T>G | |
| XM_005246366.2:c.494-16T>G | XP_005246423.1:n.494-16T>G | |
| XM_005246367.2:c.494-16T>G | XP_005246424.1:n.494-16T>G | |
| XM_005246369.3:c.434-16T>G | XP_005246426.1:n.434-16T>G | |
| XM_006712347.2:c.494-16T>G | XP_006712410.1:n.494-16T>G | |
| XM_006712348.2:c.488-16T>G | XP_006712411.1:n.488-16T>G | |
| NM_001320882.1:c.494-16T>G | NP_001307811.1:n.494-16T>G | |
| NM_001320883.1:c.494-16T>G | NP_001307812.1:n.494-16T>G | |
| NM_001320884.1:c.434-16T>G | NP_001307813.1:n.434-16T>G | |
| XM_006712347.4:c.494-16T>G | XP_006712410.1:n.494-16T>G | |
| XM_017003525.2:c.494-16T>G | XP_016859014.1:n.494-16T>G | |
| NM_001271785.2:c.512-16T>G | NP_001258714.1:n.512-16T>G | |
| NM_001271786.2:c.488-16T>G | NP_001258715.1:n.488-16T>G | |
| NM_001271787.2:c.488-16T>G | NP_001258716.1:n.488-16T>G | |
| NM_001271788.2:c.434-16T>G | NP_001258717.1:n.434-16T>G | |
| NM_001271789.2:c.434-16T>G | NP_001258718.1:n.434-16T>G | |
| NM_001271790.2:c.434-16T>G | NP_001258719.1:n.434-16T>G | |
| NM_001320882.2:c.494-16T>G | NP_001307811.1:n.494-16T>G | |
| NM_001320883.2:c.494-16T>G | NP_001307812.1:n.494-16T>G | |
| NM_001320884.2:c.434-16T>G | NP_001307813.1:n.434-16T>G | |
| NM_001378.3:c.512-16T>G MANE Select | NP_001369.1:n.512-16T>G | |
| NM_001378455.1:c.494-16T>G | NP_001365384.1:n.494-16T>G | |
| NM_001378456.1:c.494-16T>G | NP_001365385.1:n.494-16T>G |