Linked Data
ClinVar Variation Id:
343063
ClinVar RCV Id:
RCV000380847
dbSNP Id:
rs76012118
gnomAD v2:
3-12526224-C-T
gnomAD v3:
3-12484725-C-T
gnomAD v4:
3-12484725-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.12484725C>T , CM000665.2:g.12484725C>T | GRCh38 |
| NC_000003.11:g.12526224C>T , CM000665.1:g.12526224C>T | GRCh37 |
| NC_000003.10:g.12501224C>T | NCBI36 |
| NG_011521.1:g.5294C>T | |
| NG_011521.2:g.5294C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000284995.11:c.-173C>T MANE Select | ENSP00000284995.6:n.-173C>T | |
| ENST00000412698.3:c.-18+208C>T | ENSP00000408528.3:n.-18+208C>T | |
| ENST00000415684.6:c.-18+208C>T | ENSP00000416510.1:n.-18+208C>T | |
| ENST00000444864.6:c.-173C>T | ENSP00000407974.2:n.-173C>T | |
| ENST00000446004.6:c.-18+208C>T | ENSP00000406238.2:n.-18+208C>T | |
| ENST00000455118.6:c.-18+208C>T | ENSP00000408744.2:n.-18+208C>T | |
| ENST00000475595.2:n.83+208C>T | ||
| ENST00000490981.2:n.163C>T | ||
| ENST00000679367.1:c.-173C>T | ENSP00000506510.1:n.-173C>T | |
| ENST00000679424.1:c.-18+208C>T | ENSP00000505917.1:n.-18+208C>T | |
| ENST00000679425.1:c.-173C>T | ENSP00000505890.1:n.-173C>T | |
| ENST00000679492.1:c.-173C>T | ENSP00000505331.1:n.-173C>T | |
| ENST00000679537.1:n.83+208C>T | ||
| ENST00000679555.1:c.-173C>T | ENSP00000505538.1:n.-173C>T | |
| ENST00000679670.1:c.-18+208C>T | ENSP00000506080.1:n.-18+208C>T | |
| ENST00000679690.1:c.-173C>T | ENSP00000506383.1:n.-173C>T | |
| ENST00000679693.1:c.-173C>T | ENSP00000505108.1:n.-173C>T | |
| ENST00000679699.1:c.-18+208C>T | ENSP00000505274.1:n.-18+208C>T | |
| ENST00000679756.1:c.-18+208C>T | ENSP00000506391.1:n.-18+208C>T | |
| ENST00000679785.1:c.-173C>T | ENSP00000506473.1:n.-173C>T | |
| ENST00000679835.1:c.-173C>T | ENSP00000505616.1:n.-173C>T | |
| ENST00000679876.1:c.-173C>T | ENSP00000504930.1:n.-173C>T | |
| ENST00000679995.1:c.-1322+208C>T | ENSP00000505221.1:n.-1322+208C>T | |
| ENST00000680126.1:c.-18+208C>T | ENSP00000505345.1:n.-18+208C>T | |
| ENST00000680172.1:n.163C>T | ||
| ENST00000680264.1:c.-173C>T | ENSP00000505273.1:n.-173C>T | |
| ENST00000680275.1:c.-18+208C>T | ENSP00000505417.1:n.-18+208C>T | |
| ENST00000680376.1:c.-18+208C>T | ENSP00000506369.1:n.-18+208C>T | |
| ENST00000680419.1:n.163C>T | ||
| ENST00000680421.1:c.-173C>T | ENSP00000505530.1:n.-173C>T | |
| ENST00000680449.1:c.-173C>T | ENSP00000505709.1:n.-173C>T | |
| ENST00000680458.1:c.-18+208C>T | ENSP00000505979.1:n.-18+208C>T | |
| ENST00000680555.1:c.-173C>T | ENSP00000505160.1:n.-173C>T | |
| ENST00000680598.1:c.-173C>T | ENSP00000506297.1:n.-173C>T | |
| ENST00000680765.1:c.-18+208C>T | ENSP00000505351.1:n.-18+208C>T | |
| ENST00000680817.1:c.-18+208C>T | ENSP00000506221.1:n.-18+208C>T | |
| ENST00000680857.1:c.-18+97C>T | ENSP00000506578.1:n.-18+97C>T | |
| ENST00000680873.1:c.-18+208C>T | ENSP00000505233.1:n.-18+208C>T | |
| ENST00000680923.1:c.-18+208C>T | ENSP00000505344.1:n.-18+208C>T | |
| ENST00000680943.1:c.-173C>T | ENSP00000505442.1:n.-173C>T | |
| ENST00000680986.1:c.-484C>T | ENSP00000505799.1:n.-484C>T | |
| ENST00000681042.1:c.-173C>T | ENSP00000505622.1:n.-173C>T | |
| ENST00000681073.1:c.-18+208C>T | ENSP00000506576.1:n.-18+208C>T | |
| ENST00000681140.1:c.-173C>T | ENSP00000505099.1:n.-173C>T | |
| ENST00000681227.1:c.-173C>T | ENSP00000505240.1:n.-173C>T | |
| ENST00000681268.1:c.-173C>T | ENSP00000505385.1:n.-173C>T | |
| ENST00000681343.1:c.-18+208C>T | ENSP00000506265.1:n.-18+208C>T | |
| ENST00000681433.1:c.-18+208C>T | ENSP00000505729.1:n.-18+208C>T | |
| ENST00000681471.1:c.-173C>T | ENSP00000505105.1:n.-173C>T | |
| ENST00000681482.1:c.-18+208C>T | ENSP00000505436.1:n.-18+208C>T | |
| ENST00000681676.1:c.-173C>T | ENSP00000506163.1:n.-173C>T | |
| ENST00000681713.1:c.-18+208C>T | ENSP00000506046.1:n.-18+208C>T | |
| ENST00000284995.10:c.-173C>T | ENSP00000284995.6:n.-173C>T | |
| ENST00000402228.7:c.-18+97C>T | ENSP00000385976.3:n.-18+97C>T | |
| ENST00000444864.5:c.-173C>T | ENSP00000407974.1:n.-173C>T | |
| ENST00000446004.5:c.-18+208C>T | ENSP00000406238.1:n.-18+208C>T | |
| ENST00000454502.6:c.-18+208C>T | ENSP00000392029.2:n.-18+208C>T | |
| ENST00000473755.5:n.215C>T | ||
| NM_001145392.1:c.-18+97C>T | NP_001138864.1:n.-18+97C>T | |
| NM_001145393.1:c.-18+208C>T | NP_001138865.1:n.-18+208C>T | |
| NM_001145394.1:c.-18+208C>T | NP_001138866.1:n.-18+208C>T | |
| NM_001145395.1:c.-173C>T | NP_001138867.1:n.-173C>T | |
| NM_025265.3:c.-173C>T | NP_079541.1:n.-173C>T | |
| XM_005265495.1:c.-18+208C>T | XP_005265552.1:n.-18+208C>T | |
| XM_005265497.1:c.-173C>T | XP_005265554.1:n.-173C>T | |
| XM_005265498.1:c.-18+208C>T | XP_005265555.1:n.-18+208C>T | |
| XM_005265499.2:c.-18+208C>T | XP_005265556.1:n.-18+208C>T | |
| XM_011534140.1:c.-18+208C>T | XP_011532442.1:n.-18+208C>T | |
| XR_245158.1:n.86+208C>T | ||
| XR_245159.3:n.86+208C>T | ||
| XR_427295.2:n.215C>T | ||
| XR_427296.1:n.86+208C>T | ||
| XR_940503.1:n.86+208C>T | ||
| NM_001145393.2:c.-18+208C>T | NP_001138865.1:n.-18+208C>T | |
| NM_001321277.1:c.-18+208C>T | NP_001308206.1:n.-18+208C>T | |
| NM_001321278.1:c.-18+208C>T | NP_001308207.1:n.-18+208C>T | |
| NM_001321279.1:c.-173C>T | NP_001308208.1:n.-173C>T | |
| NR_135607.1:n.86+208C>T | ||
| XM_017007292.1:c.-18+208C>T | XP_016862781.1:n.-18+208C>T | |
| XM_017007293.1:c.-173C>T | XP_016862782.1:n.-173C>T | |
| XM_017007294.1:c.-18+97C>T | XP_016862783.1:n.-18+97C>T | |
| XM_017007296.2:c.-484C>T | XP_016862785.1:n.-484C>T | |
| XM_017007297.1:c.-173C>T | XP_016862786.1:n.-173C>T | |
| XM_024453784.1:c.-173C>T | XP_024309552.1:n.-173C>T | |
| XM_024453785.1:c.-18+97C>T | XP_024309553.1:n.-18+97C>T | |
| XR_001740287.1:n.215C>T | ||
| XR_001740288.2:n.215C>T | ||
| XR_001740289.2:n.215C>T | ||
| XR_001740290.2:n.62+208C>T | ||
| XR_001740291.1:n.215C>T | ||
| XR_001740292.1:n.215C>T | ||
| XR_001740293.1:n.215C>T | ||
| XR_001740294.2:n.62+208C>T | ||
| XR_001740295.2:n.62+208C>T | ||
| XR_001740296.1:n.215C>T | ||
| XR_001740297.1:n.215C>T | ||
| XR_001740298.2:n.62+208C>T | ||
| XR_001740300.2:n.62+208C>T | ||
| XR_001740301.2:n.62+208C>T | ||
| XR_001740302.2:n.62+208C>T | ||
| XR_001740303.2:n.62+208C>T | ||
| XR_001740304.1:n.215C>T | ||
| XR_002959592.1:n.104+97C>T | ||
| XR_002959593.1:n.118+97C>T | ||
| XR_002959594.1:n.62+208C>T | ||
| XR_002959595.1:n.215C>T | ||
| XR_427296.2:n.62+208C>T | ||
| NM_001321278.2:c.-18+208C>T | NP_001308207.1:n.-18+208C>T | |
| NM_025265.4:c.-173C>T MANE Select | NP_079541.1:n.-173C>T | |
| NR_135607.2:n.38+208C>T | ||
| NM_001145392.2:c.-18+97C>T | NP_001138864.1:n.-18+97C>T | |
| NM_001145393.3:c.-18+208C>T | NP_001138865.1:n.-18+208C>T | |
| NM_001145394.2:c.-18+208C>T | NP_001138866.1:n.-18+208C>T | |
| NM_001321277.2:c.-18+208C>T | NP_001308206.1:n.-18+208C>T | |
| NM_001321279.2:c.-173C>T | NP_001308208.1:n.-173C>T |