Linked Data
ClinVar Variation Id:
127094
ClinVar RCV Id:
RCV000114952
dbSNP Id:
rs587777320
gnomAD v4:
4-155711252-G-A
PubMed:
PMID:24581742
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.155711252G>A , CM000666.2:g.155711252G>A | GRCh38 |
| NC_000004.11:g.156632404G>A , CM000666.1:g.156632404G>A | GRCh37 |
| NC_000004.10:g.156851854G>A | NCBI36 |
| NG_034128.1:g.49543G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000506455.6:c.1086+1G>A MANE Select | ENSP00000424361.1:n.1086+1G>A | |
| ENST00000296518.11:c.1086+1G>A | ENSP00000296518.7:n.1086+1G>A | |
| ENST00000393832.7:c.312+1G>A | ENSP00000377418.3:n.312+1G>A | |
| ENST00000443668.6:c.*529+1G>A | ENSP00000409903.2:n.*529+1G>A | |
| ENST00000455639.6:c.1086+1G>A | ENSP00000412201.2:n.1086+1G>A | |
| ENST00000506455.5:c.1086+1G>A | ENSP00000424361.1:n.1086+1G>A | |
| ENST00000509901.5:c.194-5907G>A | ENSP00000424863.1:n.194-5907G>A | |
| ENST00000511108.5:c.1086+1G>A | ENSP00000421493.1:n.1086+1G>A | |
| ENST00000511507.5:c.1086+1G>A | ENSP00000426968.1:n.1086+1G>A | |
| ENST00000512983.5:n.1411G>A | ||
| ENST00000513574.1:c.1086+1G>A | ENSP00000426040.1:n.1086+1G>A | |
| ENST00000515201.5:c.376+2958G>A | ENSP00000422141.1:n.376+2958G>A | |
| ENST00000621234.4:c.376+2958G>A | ENSP00000479710.1:n.376+2958G>A | |
| NM_000856.5:c.1086+1G>A | NP_000847.2:n.1086+1G>A | |
| NM_001130682.2:c.1086+1G>A | NP_001124154.1:n.1086+1G>A | |
| NM_001130683.3:c.1086+1G>A | NP_001124155.1:n.1086+1G>A | |
| NM_001130684.2:c.1086+1G>A | NP_001124156.1:n.1086+1G>A | |
| NM_001130685.2:c.381+1G>A | NP_001124157.1:n.381+1G>A | |
| NM_001130687.2:c.1086+1G>A | NP_001124159.1:n.1086+1G>A | |
| NM_001256449.1:c.1086+1G>A | NP_001243378.1:n.1086+1G>A | |
| XM_005262955.1:c.1086+1G>A | XP_005263012.1:n.1086+1G>A | |
| XM_005262956.1:c.381+1G>A | XP_005263013.1:n.381+1G>A | |
| XM_005262957.1:c.381+1G>A | XP_005263014.1:n.381+1G>A | |
| XM_006714196.1:c.1086+1G>A | XP_006714259.1:n.1086+1G>A | |
| XM_006714197.1:c.1086+1G>A | XP_006714260.1:n.1086+1G>A | |
| XM_006714198.1:c.381+1G>A | XP_006714261.1:n.381+1G>A | |
| XM_011531899.1:c.1086+1G>A | XP_011530201.1:n.1086+1G>A | |
| XM_011531900.1:c.381+1G>A | XP_011530202.1:n.381+1G>A | |
| XM_005262955.3:c.1086+1G>A | XP_005263012.1:n.1086+1G>A | |
| XM_005262956.3:c.381+1G>A | XP_005263013.1:n.381+1G>A | |
| XM_005262957.3:c.381+1G>A | XP_005263014.1:n.381+1G>A | |
| XM_006714196.2:c.1086+1G>A | XP_006714259.1:n.1086+1G>A | |
| XM_006714197.2:c.1086+1G>A | XP_006714260.1:n.1086+1G>A | |
| XM_011531900.2:c.381+1G>A | XP_011530202.1:n.381+1G>A | |
| NM_000856.6:c.1086+1G>A | NP_000847.2:n.1086+1G>A | |
| NM_001130682.3:c.1086+1G>A MANE Select | NP_001124154.1:n.1086+1G>A | |
| NM_001130683.4:c.1086+1G>A | NP_001124155.1:n.1086+1G>A | |
| NM_001130684.3:c.1086+1G>A | NP_001124156.1:n.1086+1G>A | |
| NM_001130685.3:c.381+1G>A | NP_001124157.1:n.381+1G>A | |
| NM_001256449.2:c.1086+1G>A | NP_001243378.1:n.1086+1G>A | |
| NM_001130687.3:c.1086+1G>A | NP_001124159.1:n.1086+1G>A | |
| NM_001379666.1:c.1086+1G>A | NP_001366595.1:n.1086+1G>A | |
| NM_001379667.1:c.1086+1G>A | NP_001366596.1:n.1086+1G>A | |
| NM_001379668.1:c.1086+1G>A | NP_001366597.1:n.1086+1G>A | |
| NM_001379669.1:c.1086+1G>A | NP_001366598.1:n.1086+1G>A | |
| NM_001379670.1:c.1086+1G>A | NP_001366599.1:n.1086+1G>A | |
| NM_001379671.1:c.1086+1G>A | NP_001366600.1:n.1086+1G>A | |
| NM_001379672.1:c.1086+1G>A | NP_001366601.1:n.1086+1G>A | |
| NM_001379673.1:c.1086+1G>A | NP_001366602.1:n.1086+1G>A | |
| NM_001379674.1:c.1086+1G>A | NP_001366603.1:n.1086+1G>A | |
| NM_001379675.1:c.1086+1G>A | NP_001366604.1:n.1086+1G>A | |
| NM_001379676.1:c.579+1G>A | NP_001366605.1:n.579+1G>A |