Linked Data
ClinVar Variation Id:
2928703
ClinVar RCV Id:
RCV003789477
dbSNP Id:
rs1161420068
gnomAD v2:
9-134397625-G-A
gnomAD v3:
9-131522238-G-A
gnomAD v4:
9-131522238-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.131522238G>A , CM000671.2:g.131522238G>A | GRCh38 |
| NC_000009.11:g.134397625G>A , CM000671.1:g.134397625G>A | GRCh37 |
| NC_000009.10:g.133387446G>A | NCBI36 |
| NG_008896.1:g.24337G>A | |
| NG_008896.2:g.24337G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000341012.13:c.1841+14G>A | ENSP00000343034.7:n.1841+14G>A | |
| ENST00000404875.7:n.2543+14G>A | ||
| ENST00000423007.6:c.2060+14G>A | ENSP00000404119.2:n.2060+14G>A | |
| ENST00000677295.2:c.*2347+14G>A | ENSP00000504346.2:n.*2347+14G>A | |
| ENST00000678264.2:c.*2186+14G>A | ENSP00000503157.2:n.*2186+14G>A | |
| ENST00000682070.1:n.2313+14G>A | ||
| ENST00000682813.1:n.2407+14G>A | ||
| ENST00000683392.1:n.4595+14G>A | ||
| ENST00000683712.1:n.2408+14G>A | ||
| ENST00000683900.1:n.3903+14G>A | ||
| ENST00000684062.1:n.2669+14G>A | ||
| ENST00000684579.1:n.3849+14G>A | ||
| ENST00000341012.12:c.1841+14G>A | ENSP00000343034.7:n.1841+14G>A | |
| ENST00000372220.5:c.872+14G>A | ENSP00000361294.5:n.872+14G>A | |
| ENST00000372228.9:c.2069+14G>A | ENSP00000361302.3:n.2069+14G>A | |
| ENST00000402686.8:c.2003+14G>A MANE Select | ENSP00000385797.4:n.2003+14G>A | |
| ENST00000676640.1:c.2003+14G>A | ENSP00000503281.1:n.2003+14G>A | |
| ENST00000676803.1:c.1064+14G>A | ENSP00000503093.1:n.1064+14G>A | |
| ENST00000676835.1:c.*1218+14G>A | ENSP00000502911.1:n.*1218+14G>A | |
| ENST00000677029.1:c.1547+14G>A | ENSP00000502936.1:n.1547+14G>A | |
| ENST00000677099.1:c.*1713+14G>A | ENSP00000504553.1:n.*1713+14G>A | |
| ENST00000677216.1:c.1652+14G>A | ENSP00000503772.1:n.1652+14G>A | |
| ENST00000677221.1:n.1028+14G>A | ||
| ENST00000677295.1:c.*1225+14G>A | ENSP00000504346.1:n.*1225+14G>A | |
| ENST00000677444.1:c.1948+14G>A | ||
| ENST00000677586.1:n.1370+14G>A | ||
| ENST00000677626.1:c.1652+14G>A | ENSP00000503552.1:n.1652+14G>A | |
| ENST00000677853.1:c.*1011+14G>A | ENSP00000503488.1:n.*1011+14G>A | |
| ENST00000678264.1:c.*1380+14G>A | ENSP00000503157.1:n.*1380+14G>A | |
| ENST00000678303.1:c.1913+14G>A | ENSP00000503696.1:n.1913+14G>A | |
| ENST00000678366.1:c.*2252+14G>A | ENSP00000504353.1:n.*2252+14G>A | |
| ENST00000678546.1:c.*1948+14G>A | ENSP00000503062.1:n.*1948+14G>A | |
| ENST00000678548.1:c.*2142+14G>A | ENSP00000503934.1:n.*2142+14G>A | |
| ENST00000678626.1:n.1839+14G>A | ||
| ENST00000678739.1:c.*2169+14G>A | ENSP00000503806.1:n.*2169+14G>A | |
| ENST00000678833.1:c.*1755+14G>A | ENSP00000503893.1:n.*1755+14G>A | |
| ENST00000679023.1:c.1841+14G>A | ENSP00000503718.1:n.1841+14G>A | |
| ENST00000679076.1:c.1622+14G>A | ||
| ENST00000679111.1:c.*759+14G>A | ENSP00000504257.1:n.*759+14G>A | |
| ENST00000679189.1:c.1652+14G>A | ENSP00000503356.1:n.1652+14G>A | |
| ENST00000341012.11:c.1841+14G>A | ENSP00000343034.7:n.1841+14G>A | |
| ENST00000372220.4:c.866+14G>A | ENSP00000361294.4:n.866+14G>A | |
| ENST00000372228.7:c.2069+14G>A | ENSP00000361302.3:n.2069+14G>A | |
| ENST00000402686.7:c.2003+14G>A | ENSP00000385797.3:n.2003+14G>A | |
| ENST00000404875.6:c.1652+14G>A | ENSP00000384531.2:n.1652+14G>A | |
| ENST00000423007.5:c.2003+14G>A | ENSP00000404119.1:n.2003+14G>A | |
| ENST00000485278.5:n.2553+14G>A | ||
| ENST00000494883.1:n.560G>A | ||
| NM_001077365.1:c.2003+14G>A | NP_001070833.1:n.2003+14G>A | |
| NM_001077366.1:c.1841+14G>A | NP_001070834.1:n.1841+14G>A | |
| NM_001136113.1:c.2003+14G>A | NP_001129585.1:n.2003+14G>A | |
| NM_001136114.1:c.1652+14G>A | NP_001129586.1:n.1652+14G>A | |
| NM_007171.3:c.2069+14G>A | NP_009102.3:n.2069+14G>A | |
| XM_005272156.1:c.2069+14G>A | XP_005272213.1:n.2069+14G>A | |
| XM_005272158.1:c.1907+14G>A | XP_005272215.1:n.1907+14G>A | |
| XM_005272159.1:c.1718+14G>A | XP_005272216.1:n.1718+14G>A | |
| XM_005272162.1:c.872+14G>A | XP_005272219.1:n.872+14G>A | |
| XM_006716932.1:c.1718+14G>A | XP_006716995.1:n.1718+14G>A | |
| XM_011518140.1:c.1922+14G>A | XP_011516442.1:n.1922+14G>A | |
| XM_011518141.1:c.1856+14G>A | XP_011516443.1:n.1856+14G>A | |
| XM_011518142.1:c.1760+14G>A | XP_011516444.1:n.1760+14G>A | |
| XM_011518143.1:c.1754+14G>A | XP_011516445.1:n.1754+14G>A | |
| XM_011518145.1:c.1613+14G>A | XP_011516447.1:n.1613+14G>A | |
| XM_011518147.1:c.941+14G>A | XP_011516449.1:n.941+14G>A | |
| XR_929703.1:n.2245+14G>A | ||
| NM_001353193.1:c.2069+14G>A | NP_001340122.1:n.2069+14G>A | |
| NM_001353194.1:c.1841+14G>A | NP_001340123.1:n.1841+14G>A | |
| NM_001353195.1:c.1652+14G>A | NP_001340124.1:n.1652+14G>A | |
| NM_001353196.1:c.1913+14G>A | NP_001340125.1:n.1913+14G>A | |
| NM_001353197.1:c.1907+14G>A | NP_001340126.1:n.1907+14G>A | |
| NM_001353198.1:c.1907+14G>A | NP_001340127.1:n.1907+14G>A | |
| NM_001353199.1:c.1718+14G>A | NP_001340128.1:n.1718+14G>A | |
| NM_001353200.1:c.1547+14G>A | NP_001340129.1:n.1547+14G>A | |
| NR_148391.1:n.2053+14G>A | ||
| NR_148392.1:n.2271+14G>A | ||
| NR_148393.1:n.2192+14G>A | ||
| NR_148394.1:n.1946+14G>A | ||
| NR_148395.1:n.2344+14G>A | ||
| NR_148396.1:n.1978+14G>A | ||
| NR_148397.1:n.2103+14G>A | ||
| NR_148398.1:n.2058+14G>A | ||
| NR_148399.1:n.2584+14G>A | ||
| NR_148400.1:n.2183+14G>A | ||
| XM_005272162.3:c.872+14G>A | XP_005272219.1:n.872+14G>A | |
| XM_006716932.2:c.1718+14G>A | XP_006716995.1:n.1718+14G>A | |
| XM_011518140.2:c.1922+14G>A | XP_011516442.1:n.1922+14G>A | |
| XM_011518141.2:c.1856+14G>A | XP_011516443.1:n.1856+14G>A | |
| XM_011518142.2:c.1760+14G>A | XP_011516444.1:n.1760+14G>A | |
| XM_011518143.2:c.1754+14G>A | XP_011516445.1:n.1754+14G>A | |
| XM_011518145.2:c.1613+14G>A | XP_011516447.1:n.1613+14G>A | |
| XM_017014205.2:c.872+14G>A | XP_016869694.1:n.872+14G>A | |
| XM_024447380.1:c.872+14G>A | XP_024303148.1:n.872+14G>A | |
| XM_024447381.1:c.1178+14G>A | XP_024303149.1:n.1178+14G>A | |
| XM_024447382.1:c.872+14G>A | XP_024303150.1:n.872+14G>A | |
| XR_001746160.2:n.2173+14G>A | ||
| XR_001746162.2:n.2378+14G>A | ||
| XR_001746164.1:n.2095+14G>A | ||
| XR_001746166.2:n.2390+14G>A | ||
| NM_001077365.2:c.2003+14G>A MANE Select | NP_001070833.1:n.2003+14G>A | |
| NM_001077366.2:c.1841+14G>A | NP_001070834.1:n.1841+14G>A | |
| NM_001136113.2:c.2003+14G>A | NP_001129585.1:n.2003+14G>A | |
| NM_001136114.2:c.1652+14G>A | NP_001129586.1:n.1652+14G>A | |
| NM_001353193.2:c.2069+14G>A | NP_001340122.2:n.2069+14G>A | |
| NM_001353194.2:c.1841+14G>A | NP_001340123.1:n.1841+14G>A | |
| NM_001353195.2:c.1652+14G>A | NP_001340124.1:n.1652+14G>A | |
| NM_001353196.2:c.1913+14G>A | NP_001340125.1:n.1913+14G>A | |
| NM_001353197.2:c.1907+14G>A | NP_001340126.2:n.1907+14G>A | |
| NM_001353198.2:c.1907+14G>A | NP_001340127.2:n.1907+14G>A | |
| NM_001353199.2:c.1718+14G>A | NP_001340128.2:n.1718+14G>A | |
| NM_001353200.2:c.1547+14G>A | NP_001340129.1:n.1547+14G>A | |
| NM_001374689.1:c.1991+14G>A | NP_001361618.1:n.1991+14G>A | |
| NM_001374690.1:c.1784+14G>A | NP_001361619.1:n.1784+14G>A | |
| NM_001374691.1:c.1652+14G>A | NP_001361620.1:n.1652+14G>A | |
| NM_001374692.1:c.1652+14G>A | NP_001361621.1:n.1652+14G>A | |
| NM_001374693.1:c.1652+14G>A | NP_001361622.1:n.1652+14G>A | |
| NM_001374695.1:c.1613+14G>A | NP_001361624.1:n.1613+14G>A | |
| NM_007171.4:c.2069+14G>A | NP_009102.4:n.2069+14G>A | |
| NR_148391.2:n.2037+14G>A | ||
| NR_148392.2:n.2255+14G>A | ||
| NR_148393.2:n.2176+14G>A | ||
| NR_148394.2:n.1930+14G>A | ||
| NR_148395.2:n.2328+14G>A | ||
| NR_148396.2:n.1962+14G>A | ||
| NR_148397.2:n.2087+14G>A | ||
| NR_148398.2:n.2042+14G>A | ||
| NR_148399.2:n.2568+14G>A | ||
| NR_148400.2:n.2167+14G>A |