Linked Data
ClinVar Variation Id:
385971
dbSNP Id:
rs200692465
ExAC:
9:134385808 T / C
gnomAD v2:
9-134385808-T-C
gnomAD v3:
9-131510421-T-C
gnomAD v4:
9-131510421-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.131510421T>C , CM000671.2:g.131510421T>C | GRCh38 |
| NC_000009.11:g.134385808T>C , CM000671.1:g.134385808T>C | GRCh37 |
| NC_000009.10:g.133375629T>C | NCBI36 |
| NG_008896.1:g.12520T>C | |
| NG_008896.2:g.12520T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000341012.13:c.693+6T>C | ENSP00000343034.7:n.693+6T>C | |
| ENST00000404875.7:n.1227+6T>C | ||
| ENST00000423007.6:c.912+6T>C | ENSP00000404119.2:n.912+6T>C | |
| ENST00000677295.2:c.*1194+6T>C | ENSP00000504346.2:n.*1194+6T>C | |
| ENST00000678264.2:c.*1038+6T>C | ENSP00000503157.2:n.*1038+6T>C | |
| ENST00000678942.2:c.*408+6T>C | ENSP00000504690.2:n.*408+6T>C | |
| ENST00000682070.1:n.1315+6T>C | ||
| ENST00000682813.1:n.1120+6T>C | ||
| ENST00000683134.1:c.222+6T>C | ||
| ENST00000683392.1:n.3602+6T>C | ||
| ENST00000683712.1:n.1255+6T>C | ||
| ENST00000683900.1:n.2182+6T>C | ||
| ENST00000684062.1:n.1521+6T>C | ||
| ENST00000684579.1:n.2696+6T>C | ||
| ENST00000341012.12:c.693+6T>C | ENSP00000343034.7:n.693+6T>C | |
| ENST00000372220.5:c.-145-1620T>C | ENSP00000361294.5:n.-145-1620T>C | |
| ENST00000372228.9:c.921+6T>C | ENSP00000361302.3:n.921+6T>C | |
| ENST00000402686.8:c.855+6T>C MANE Select | ENSP00000385797.4:n.855+6T>C | |
| ENST00000415075.6:c.*308+6T>C | ENSP00000405149.2:n.*308+6T>C | |
| ENST00000676640.1:c.855+6T>C | ENSP00000503281.1:n.855+6T>C | |
| ENST00000676803.1:c.30+6T>C | ENSP00000503093.1:n.30+6T>C | |
| ENST00000676835.1:c.*65+6T>C | ENSP00000502911.1:n.*65+6T>C | |
| ENST00000677029.1:c.399+6T>C | ENSP00000502936.1:n.399+6T>C | |
| ENST00000677099.1:c.*565+6T>C | ENSP00000504553.1:n.*565+6T>C | |
| ENST00000677216.1:c.504+6T>C | ENSP00000503772.1:n.504+6T>C | |
| ENST00000677293.1:c.30+6T>C | ENSP00000504278.1:n.30+6T>C | |
| ENST00000677295.1:c.*227+6T>C | ENSP00000504346.1:n.*227+6T>C | |
| ENST00000677444.1:c.661+6T>C | ||
| ENST00000677586.1:n.336+6T>C | ||
| ENST00000677626.1:c.693+6T>C | ENSP00000503552.1:n.693+6T>C | |
| ENST00000677677.1:n.815+6T>C | ||
| ENST00000677853.1:c.436+6T>C | ENSP00000503488.1:n.436+6T>C | |
| ENST00000677944.1:c.117+6T>C | ||
| ENST00000678264.1:c.*227+6T>C | ENSP00000503157.1:n.*227+6T>C | |
| ENST00000678303.1:c.765+6T>C | ENSP00000503696.1:n.765+6T>C | |
| ENST00000678366.1:c.*1104+6T>C | ENSP00000504353.1:n.*1104+6T>C | |
| ENST00000678546.1:c.*227+6T>C | ENSP00000503062.1:n.*227+6T>C | |
| ENST00000678548.1:c.*922+6T>C | ENSP00000503934.1:n.*922+6T>C | |
| ENST00000678626.1:n.547+6T>C | ||
| ENST00000678707.1:n.493+6T>C | ||
| ENST00000678733.1:c.29+6T>C | ||
| ENST00000678739.1:c.*1176+6T>C | ENSP00000503806.1:n.*1176+6T>C | |
| ENST00000678833.1:c.*302+6T>C | ENSP00000503893.1:n.*302+6T>C | |
| ENST00000678942.1:c.30+6T>C | ENSP00000504690.1:n.30+6T>C | |
| ENST00000679023.1:c.693+6T>C | ENSP00000503718.1:n.693+6T>C | |
| ENST00000679073.1:c.233+6T>C | ENSP00000504356.1:n.233+6T>C | |
| ENST00000679076.1:c.469+6T>C | ||
| ENST00000679111.1:c.855+6T>C | ENSP00000504257.1:n.855+6T>C | |
| ENST00000679189.1:c.504+6T>C | ENSP00000503356.1:n.504+6T>C | |
| ENST00000341012.11:c.693+6T>C | ENSP00000343034.7:n.693+6T>C | |
| ENST00000372228.7:c.921+6T>C | ENSP00000361302.3:n.921+6T>C | |
| ENST00000402686.7:c.855+6T>C | ENSP00000385797.3:n.855+6T>C | |
| ENST00000404875.6:c.504+6T>C | ENSP00000384531.2:n.504+6T>C | |
| ENST00000415075.5:c.247+6T>C | ENSP00000405149.1:n.247+6T>C | |
| ENST00000423007.5:c.855+6T>C | ENSP00000404119.1:n.855+6T>C | |
| ENST00000441334.5:c.570+6T>C | ENSP00000395060.1:n.570+6T>C | |
| ENST00000462375.5:n.676+6T>C | ||
| NM_001077365.1:c.855+6T>C | NP_001070833.1:n.855+6T>C | |
| NM_001077366.1:c.693+6T>C | NP_001070834.1:n.693+6T>C | |
| NM_001136113.1:c.855+6T>C | NP_001129585.1:n.855+6T>C | |
| NM_001136114.1:c.504+6T>C | NP_001129586.1:n.504+6T>C | |
| NM_007171.3:c.921+6T>C | NP_009102.3:n.921+6T>C | |
| XM_005272156.1:c.921+6T>C | XP_005272213.1:n.921+6T>C | |
| XM_005272158.1:c.759+6T>C | XP_005272215.1:n.759+6T>C | |
| XM_005272159.1:c.570+6T>C | XP_005272216.1:n.570+6T>C | |
| XM_005272162.1:c.-282+6T>C | XP_005272219.1:n.-282+6T>C | |
| XM_006716932.1:c.570+6T>C | XP_006716995.1:n.570+6T>C | |
| XM_011518140.1:c.774+6T>C | XP_011516442.1:n.774+6T>C | |
| XM_011518141.1:c.708+6T>C | XP_011516443.1:n.708+6T>C | |
| XM_011518142.1:c.612+6T>C | XP_011516444.1:n.612+6T>C | |
| XM_011518143.1:c.601+6T>C | XP_011516445.1:n.601+6T>C | |
| XM_011518144.1:c.921+6T>C | XP_011516446.1:n.921+6T>C | |
| XM_011518145.1:c.465+6T>C | XP_011516447.1:n.465+6T>C | |
| XM_011518146.1:c.601+6T>C | XP_011516448.1:n.601+6T>C | |
| XR_929703.1:n.1097+6T>C | ||
| NM_001353193.1:c.921+6T>C | NP_001340122.1:n.921+6T>C | |
| NM_001353194.1:c.693+6T>C | NP_001340123.1:n.693+6T>C | |
| NM_001353195.1:c.504+6T>C | NP_001340124.1:n.504+6T>C | |
| NM_001353196.1:c.765+6T>C | NP_001340125.1:n.765+6T>C | |
| NM_001353197.1:c.759+6T>C | NP_001340126.1:n.759+6T>C | |
| NM_001353198.1:c.759+6T>C | NP_001340127.1:n.759+6T>C | |
| NM_001353199.1:c.570+6T>C | NP_001340128.1:n.570+6T>C | |
| NM_001353200.1:c.399+6T>C | NP_001340129.1:n.399+6T>C | |
| NR_148391.1:n.905+6T>C | ||
| NR_148392.1:n.1123+6T>C | ||
| NR_148393.1:n.905+6T>C | ||
| NR_148394.1:n.793+6T>C | ||
| NR_148395.1:n.1057+6T>C | ||
| NR_148396.1:n.686+6T>C | ||
| NR_148397.1:n.950+6T>C | ||
| NR_148398.1:n.905+6T>C | ||
| NR_148399.1:n.1297+6T>C | ||
| NR_148400.1:n.891+6T>C | ||
| XM_005272162.3:c.-282+6T>C | XP_005272219.1:n.-282+6T>C | |
| XM_006716932.2:c.570+6T>C | XP_006716995.1:n.570+6T>C | |
| XM_011518140.2:c.774+6T>C | XP_011516442.1:n.774+6T>C | |
| XM_011518141.2:c.708+6T>C | XP_011516443.1:n.708+6T>C | |
| XM_011518142.2:c.612+6T>C | XP_011516444.1:n.612+6T>C | |
| XM_011518143.2:c.601+6T>C | XP_011516445.1:n.601+6T>C | |
| XM_011518145.2:c.465+6T>C | XP_011516447.1:n.465+6T>C | |
| XM_017014205.2:c.-282+6T>C | XP_016869694.1:n.-282+6T>C | |
| XM_024447380.1:c.-282+6T>C | XP_024303148.1:n.-282+6T>C | |
| XM_024447381.1:c.30+6T>C | XP_024303149.1:n.30+6T>C | |
| XM_024447382.1:c.-282+6T>C | XP_024303150.1:n.-282+6T>C | |
| XR_001746160.2:n.1025+6T>C | ||
| XR_001746162.2:n.1091+6T>C | ||
| XR_001746164.1:n.803+6T>C | ||
| XR_001746166.2:n.1242+6T>C | ||
| NM_001077365.2:c.855+6T>C MANE Select | NP_001070833.1:n.855+6T>C | |
| NM_001077366.2:c.693+6T>C | NP_001070834.1:n.693+6T>C | |
| NM_001136113.2:c.855+6T>C | NP_001129585.1:n.855+6T>C | |
| NM_001136114.2:c.504+6T>C | NP_001129586.1:n.504+6T>C | |
| NM_001353193.2:c.921+6T>C | NP_001340122.2:n.921+6T>C | |
| NM_001353194.2:c.693+6T>C | NP_001340123.1:n.693+6T>C | |
| NM_001353195.2:c.504+6T>C | NP_001340124.1:n.504+6T>C | |
| NM_001353196.2:c.765+6T>C | NP_001340125.1:n.765+6T>C | |
| NM_001353197.2:c.759+6T>C | NP_001340126.2:n.759+6T>C | |
| NM_001353198.2:c.759+6T>C | NP_001340127.2:n.759+6T>C | |
| NM_001353199.2:c.570+6T>C | NP_001340128.2:n.570+6T>C | |
| NM_001353200.2:c.399+6T>C | NP_001340129.1:n.399+6T>C | |
| NM_001374689.1:c.838+6T>C | NP_001361618.1:n.838+6T>C | |
| NM_001374690.1:c.855+6T>C | NP_001361619.1:n.855+6T>C | |
| NM_001374691.1:c.504+6T>C | NP_001361620.1:n.504+6T>C | |
| NM_001374692.1:c.504+6T>C | NP_001361621.1:n.504+6T>C | |
| NM_001374693.1:c.693+6T>C | NP_001361622.1:n.693+6T>C | |
| NM_001374695.1:c.465+6T>C | NP_001361624.1:n.465+6T>C | |
| NM_007171.4:c.921+6T>C | NP_009102.4:n.921+6T>C | |
| NR_148391.2:n.889+6T>C | ||
| NR_148392.2:n.1107+6T>C | ||
| NR_148393.2:n.889+6T>C | ||
| NR_148394.2:n.777+6T>C | ||
| NR_148395.2:n.1041+6T>C | ||
| NR_148396.2:n.670+6T>C | ||
| NR_148397.2:n.934+6T>C | ||
| NR_148398.2:n.889+6T>C | ||
| NR_148399.2:n.1281+6T>C | ||
| NR_148400.2:n.875+6T>C |