Linked Data
ClinVar Variation Id:
2950444
ClinVar RCV Id:
RCV003809754
dbSNP Id:
rs778738696
ExAC:
9:134390794 C / G
gnomAD v2:
9-134390794-C-G
gnomAD v4:
9-131515407-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.131515407C>G , CM000671.2:g.131515407C>G | GRCh38 |
| NC_000009.11:g.134390794C>G , CM000671.1:g.134390794C>G | GRCh37 |
| NC_000009.10:g.133380615C>G | NCBI36 |
| NG_008896.1:g.17506C>G | |
| NG_008896.2:g.17506C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000341012.13:c.1014-19C>G | ENSP00000343034.7:n.1014-19C>G | |
| ENST00000404875.7:n.1716-19C>G | ||
| ENST00000423007.6:c.1233-19C>G | ENSP00000404119.2:n.1233-19C>G | |
| ENST00000677295.2:c.*1520-19C>G | ENSP00000504346.2:n.*1520-19C>G | |
| ENST00000678264.2:c.*1359-19C>G | ENSP00000503157.2:n.*1359-19C>G | |
| ENST00000682070.1:n.1641-19C>G | ||
| ENST00000682813.1:n.1441-19C>G | ||
| ENST00000683392.1:n.3923-19C>G | ||
| ENST00000683712.1:n.1581-19C>G | ||
| ENST00000683900.1:n.3076-19C>G | ||
| ENST00000684062.1:n.1842-19C>G | ||
| ENST00000684579.1:n.3022-19C>G | ||
| ENST00000341012.12:c.1014-19C>G | ENSP00000343034.7:n.1014-19C>G | |
| ENST00000372220.5:c.45-19C>G | ENSP00000361294.5:n.45-19C>G | |
| ENST00000372228.9:c.1242-19C>G | ENSP00000361302.3:n.1242-19C>G | |
| ENST00000402686.8:c.1176-19C>G MANE Select | ENSP00000385797.4:n.1176-19C>G | |
| ENST00000676640.1:c.1176-19C>G | ENSP00000503281.1:n.1176-19C>G | |
| ENST00000676803.1:c.351-19C>G | ENSP00000503093.1:n.351-19C>G | |
| ENST00000676835.1:c.*391-19C>G | ENSP00000502911.1:n.*391-19C>G | |
| ENST00000677029.1:c.720-19C>G | ENSP00000502936.1:n.720-19C>G | |
| ENST00000677099.1:c.*886-19C>G | ENSP00000504553.1:n.*886-19C>G | |
| ENST00000677216.1:c.825-19C>G | ENSP00000503772.1:n.825-19C>G | |
| ENST00000677293.1:c.351-19C>G | ENSP00000504278.1:n.351-19C>G | |
| ENST00000677295.1:c.*553-19C>G | ENSP00000504346.1:n.*553-19C>G | |
| ENST00000677444.1:c.982-19C>G | ||
| ENST00000677586.1:n.657-19C>G | ||
| ENST00000677626.1:c.825-19C>G | ENSP00000503552.1:n.825-19C>G | |
| ENST00000677677.1:n.1136-19C>G | ||
| ENST00000677853.1:c.*184-19C>G | ENSP00000503488.1:n.*184-19C>G | |
| ENST00000677944.1:c.438-19C>G | ||
| ENST00000678264.1:c.*553-19C>G | ENSP00000503157.1:n.*553-19C>G | |
| ENST00000678303.1:c.1086-19C>G | ENSP00000503696.1:n.1086-19C>G | |
| ENST00000678366.1:c.*1425-19C>G | ENSP00000504353.1:n.*1425-19C>G | |
| ENST00000678546.1:c.*1121-19C>G | ENSP00000503062.1:n.*1121-19C>G | |
| ENST00000678548.1:c.*1248-19C>G | ENSP00000503934.1:n.*1248-19C>G | |
| ENST00000678626.1:n.873-19C>G | ||
| ENST00000678733.1:c.257-19C>G | ||
| ENST00000678739.1:c.*1502-19C>G | ENSP00000503806.1:n.*1502-19C>G | |
| ENST00000678795.1:n.263-19C>G | ||
| ENST00000678833.1:c.*623-19C>G | ENSP00000503893.1:n.*623-19C>G | |
| ENST00000678942.1:c.356-19C>G | ENSP00000504690.1:n.356-19C>G | |
| ENST00000679023.1:c.1014-19C>G | ENSP00000503718.1:n.1014-19C>G | |
| ENST00000679076.1:c.795-19C>G | ||
| ENST00000679111.1:c.1176-19C>G | ENSP00000504257.1:n.1176-19C>G | |
| ENST00000679189.1:c.825-19C>G | ENSP00000503356.1:n.825-19C>G | |
| ENST00000341012.11:c.1014-19C>G | ENSP00000343034.7:n.1014-19C>G | |
| ENST00000372228.7:c.1242-19C>G | ENSP00000361302.3:n.1242-19C>G | |
| ENST00000402686.7:c.1176-19C>G | ENSP00000385797.3:n.1176-19C>G | |
| ENST00000404875.6:c.825-19C>G | ENSP00000384531.2:n.825-19C>G | |
| ENST00000423007.5:c.1176-19C>G | ENSP00000404119.1:n.1176-19C>G | |
| ENST00000485278.5:n.1731-19C>G | ||
| NM_001077365.1:c.1176-19C>G | NP_001070833.1:n.1176-19C>G | |
| NM_001077366.1:c.1014-19C>G | NP_001070834.1:n.1014-19C>G | |
| NM_001136113.1:c.1176-19C>G | NP_001129585.1:n.1176-19C>G | |
| NM_001136114.1:c.825-19C>G | NP_001129586.1:n.825-19C>G | |
| NM_007171.3:c.1242-19C>G | NP_009102.3:n.1242-19C>G | |
| XM_005272156.1:c.1242-19C>G | XP_005272213.1:n.1242-19C>G | |
| XM_005272158.1:c.1080-19C>G | XP_005272215.1:n.1080-19C>G | |
| XM_005272159.1:c.891-19C>G | XP_005272216.1:n.891-19C>G | |
| XM_005272162.1:c.45-19C>G | XP_005272219.1:n.45-19C>G | |
| XM_006716932.1:c.891-19C>G | XP_006716995.1:n.891-19C>G | |
| XM_011518140.1:c.1095-19C>G | XP_011516442.1:n.1095-19C>G | |
| XM_011518141.1:c.1029-19C>G | XP_011516443.1:n.1029-19C>G | |
| XM_011518142.1:c.933-19C>G | XP_011516444.1:n.933-19C>G | |
| XM_011518143.1:c.927-19C>G | XP_011516445.1:n.927-19C>G | |
| XM_011518144.1:c.1242-19C>G | XP_011516446.1:n.1242-19C>G | |
| XM_011518145.1:c.786-19C>G | XP_011516447.1:n.786-19C>G | |
| XM_011518146.1:c.927-19C>G | XP_011516448.1:n.927-19C>G | |
| XR_929703.1:n.1418-19C>G | ||
| NM_001353193.1:c.1242-19C>G | NP_001340122.1:n.1242-19C>G | |
| NM_001353194.1:c.1014-19C>G | NP_001340123.1:n.1014-19C>G | |
| NM_001353195.1:c.825-19C>G | NP_001340124.1:n.825-19C>G | |
| NM_001353196.1:c.1086-19C>G | NP_001340125.1:n.1086-19C>G | |
| NM_001353197.1:c.1080-19C>G | NP_001340126.1:n.1080-19C>G | |
| NM_001353198.1:c.1080-19C>G | NP_001340127.1:n.1080-19C>G | |
| NM_001353199.1:c.891-19C>G | NP_001340128.1:n.891-19C>G | |
| NM_001353200.1:c.720-19C>G | NP_001340129.1:n.720-19C>G | |
| NR_148391.1:n.1226-19C>G | ||
| NR_148392.1:n.1444-19C>G | ||
| NR_148393.1:n.1226-19C>G | ||
| NR_148394.1:n.1119-19C>G | ||
| NR_148395.1:n.1378-19C>G | ||
| NR_148396.1:n.1012-19C>G | ||
| NR_148397.1:n.1276-19C>G | ||
| NR_148398.1:n.1231-19C>G | ||
| NR_148399.1:n.1618-19C>G | ||
| NR_148400.1:n.1217-19C>G | ||
| XM_005272162.3:c.45-19C>G | XP_005272219.1:n.45-19C>G | |
| XM_006716932.2:c.891-19C>G | XP_006716995.1:n.891-19C>G | |
| XM_011518140.2:c.1095-19C>G | XP_011516442.1:n.1095-19C>G | |
| XM_011518141.2:c.1029-19C>G | XP_011516443.1:n.1029-19C>G | |
| XM_011518142.2:c.933-19C>G | XP_011516444.1:n.933-19C>G | |
| XM_011518143.2:c.927-19C>G | XP_011516445.1:n.927-19C>G | |
| XM_011518145.2:c.786-19C>G | XP_011516447.1:n.786-19C>G | |
| XM_017014205.2:c.45-19C>G | XP_016869694.1:n.45-19C>G | |
| XM_024447380.1:c.45-19C>G | XP_024303148.1:n.45-19C>G | |
| XM_024447381.1:c.351-19C>G | XP_024303149.1:n.351-19C>G | |
| XM_024447382.1:c.45-19C>G | XP_024303150.1:n.45-19C>G | |
| XR_001746160.2:n.1346-19C>G | ||
| XR_001746162.2:n.1412-19C>G | ||
| XR_001746164.1:n.1129-19C>G | ||
| XR_001746166.2:n.1563-19C>G | ||
| NM_001077365.2:c.1176-19C>G MANE Select | NP_001070833.1:n.1176-19C>G | |
| NM_001077366.2:c.1014-19C>G | NP_001070834.1:n.1014-19C>G | |
| NM_001136113.2:c.1176-19C>G | NP_001129585.1:n.1176-19C>G | |
| NM_001136114.2:c.825-19C>G | NP_001129586.1:n.825-19C>G | |
| NM_001353193.2:c.1242-19C>G | NP_001340122.2:n.1242-19C>G | |
| NM_001353194.2:c.1014-19C>G | NP_001340123.1:n.1014-19C>G | |
| NM_001353195.2:c.825-19C>G | NP_001340124.1:n.825-19C>G | |
| NM_001353196.2:c.1086-19C>G | NP_001340125.1:n.1086-19C>G | |
| NM_001353197.2:c.1080-19C>G | NP_001340126.2:n.1080-19C>G | |
| NM_001353198.2:c.1080-19C>G | NP_001340127.2:n.1080-19C>G | |
| NM_001353199.2:c.891-19C>G | NP_001340128.2:n.891-19C>G | |
| NM_001353200.2:c.720-19C>G | NP_001340129.1:n.720-19C>G | |
| NM_001374689.1:c.1164-19C>G | NP_001361618.1:n.1164-19C>G | |
| NM_001374690.1:c.1176-19C>G | NP_001361619.1:n.1176-19C>G | |
| NM_001374691.1:c.825-19C>G | NP_001361620.1:n.825-19C>G | |
| NM_001374692.1:c.825-19C>G | NP_001361621.1:n.825-19C>G | |
| NM_001374693.1:c.825-19C>G | NP_001361622.1:n.825-19C>G | |
| NM_001374695.1:c.786-19C>G | NP_001361624.1:n.786-19C>G | |
| NM_007171.4:c.1242-19C>G | NP_009102.4:n.1242-19C>G | |
| NR_148391.2:n.1210-19C>G | ||
| NR_148392.2:n.1428-19C>G | ||
| NR_148393.2:n.1210-19C>G | ||
| NR_148394.2:n.1103-19C>G | ||
| NR_148395.2:n.1362-19C>G | ||
| NR_148396.2:n.996-19C>G | ||
| NR_148397.2:n.1260-19C>G | ||
| NR_148398.2:n.1215-19C>G | ||
| NR_148399.2:n.1602-19C>G | ||
| NR_148400.2:n.1201-19C>G |