Linked Data
ClinVar Variation Id:
1249612
dbSNP Id:
rs2289656
ExAC:
9:87563562 G / A
gnomAD v2:
9-87563562-G-A
gnomAD v3:
9-84948647-G-A
gnomAD v4:
9-84948647-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.84948647G>A , CM000671.2:g.84948647G>A | GRCh38 |
| NC_000009.11:g.87563562G>A , CM000671.1:g.87563562G>A | GRCh37 |
| NC_000009.10:g.86753382G>A | NCBI36 |
| NG_012201.2:g.285097G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000323115.11:c.1853+13G>A | ENSP00000314586.5:n.1853+13G>A | |
| ENST00000685095.1:n.2423+13G>A | ||
| ENST00000685463.1:n.2554+13G>A | ||
| ENST00000686259.1:c.1889+13G>A | ENSP00000509743.1:n.1889+13G>A | |
| ENST00000686324.1:c.1937+13G>A | ENSP00000510134.1:n.1937+13G>A | |
| ENST00000686332.1:n.2967+13G>A | ||
| ENST00000686496.1:c.1889+13G>A | ENSP00000510060.1:n.1889+13G>A | |
| ENST00000687386.1:c.1889+13G>A | ENSP00000508723.1:n.1889+13G>A | |
| ENST00000688333.1:n.2822+13G>A | ||
| ENST00000688978.1:n.608+13G>A | ||
| ENST00000689301.1:c.1421+13G>A | ENSP00000510766.1:n.1421+13G>A | |
| ENST00000690882.1:n.2554+13G>A | ||
| ENST00000691788.1:c.1889+13G>A | ENSP00000509401.1:n.1889+13G>A | |
| ENST00000692181.1:c.1889+13G>A | ENSP00000510619.1:n.1889+13G>A | |
| ENST00000692473.1:c.1469+13G>A | ENSP00000509020.1:n.1469+13G>A | |
| ENST00000277120.8:c.1937+13G>A MANE Select | ENSP00000277120.3:n.1937+13G>A | |
| ENST00000323115.10:c.1889+13G>A | ENSP00000314586.4:n.1889+13G>A | |
| ENST00000376213.6:c.1889+13G>A | ENSP00000365386.1:n.1889+13G>A | |
| ENST00000277120.7:c.1937+13G>A | ENSP00000277120.3:n.1937+13G>A | |
| ENST00000323115.8:c.1889+13G>A | ENSP00000314586.4:n.1889+13G>A | |
| ENST00000376213.5:c.1889+13G>A | ENSP00000365386.1:n.1889+13G>A | |
| ENST00000376214.5:c.1937+13G>A | ENSP00000365387.1:n.1937+13G>A | |
| NM_001018064.2:c.1889+13G>A | NP_001018074.1:n.1889+13G>A | |
| NM_006180.4:c.1937+13G>A | NP_006171.2:n.1937+13G>A | |
| XM_005252001.1:c.1937+13G>A | XP_005252058.1:n.1937+13G>A | |
| XM_005252003.1:c.1937+13G>A | XP_005252060.1:n.1937+13G>A | |
| XM_005252004.1:c.1937+13G>A | XP_005252061.1:n.1937+13G>A | |
| XM_011518718.1:c.1889+13G>A | XP_011517020.1:n.1889+13G>A | |
| XM_011518719.1:c.1889+13G>A | XP_011517021.1:n.1889+13G>A | |
| XM_005252001.3:c.1937+13G>A | XP_005252058.1:n.1937+13G>A | |
| XM_005252003.3:c.1937+13G>A | XP_005252060.1:n.1937+13G>A | |
| XM_005252004.2:c.1937+13G>A | XP_005252061.1:n.1937+13G>A | |
| XM_011518718.3:c.1889+13G>A | XP_011517020.1:n.1889+13G>A | |
| XM_017014751.2:c.1937+13G>A | XP_016870240.1:n.1937+13G>A | |
| XM_017014752.1:c.1889+13G>A | XP_016870241.1:n.1889+13G>A | |
| XM_017014753.2:c.1889+13G>A | XP_016870242.1:n.1889+13G>A | |
| XM_017014754.1:c.1889+13G>A | XP_016870243.1:n.1889+13G>A | |
| NM_001018064.3:c.1889+13G>A | NP_001018074.1:n.1889+13G>A | |
| NM_001369532.1:c.1889+13G>A | NP_001356461.1:n.1889+13G>A | |
| NM_001369533.1:c.1889+13G>A | NP_001356462.1:n.1889+13G>A | |
| NM_001369534.1:c.1853+13G>A | NP_001356463.1:n.1853+13G>A | |
| NM_001369535.1:c.1421+13G>A | NP_001356464.1:n.1421+13G>A | |
| NM_001369536.1:c.1469+13G>A | NP_001356465.1:n.1469+13G>A | |
| NM_006180.5:c.1937+13G>A | NP_006171.2:n.1937+13G>A | |
| NM_006180.6:c.1937+13G>A MANE Select | NP_006171.2:n.1937+13G>A |