Linked Data
ClinVar Variation Id:
1906590
ClinVar RCV Id:
RCV002589083
dbSNP Id:
rs1431243867
gnomAD v2:
9-139305202-G-A
gnomAD v3:
9-136410750-G-A
gnomAD v4:
9-136410750-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.136410750G>A , CM000671.2:g.136410750G>A | GRCh38 |
| NC_000009.11:g.139305202G>A , CM000671.1:g.139305202G>A | GRCh37 |
| NC_000009.10:g.138425023G>A | NCBI36 |
| NG_046789.1:g.5178G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000444897.3:c.71+11G>A | ENSP00000408393.2:n.71+11G>A | |
| ENST00000612553.5:n.99+11G>A | ||
| ENST00000706227.1:c.71+11G>A | ENSP00000516285.1:n.71+11G>A | |
| ENST00000706228.1:c.71+11G>A | ENSP00000516286.1:n.71+11G>A | |
| ENST00000706375.1:c.71+11G>A | ENSP00000516357.1:n.71+11G>A | |
| ENST00000706376.1:c.71+11G>A | ENSP00000516358.1:n.71+11G>A | |
| ENST00000706377.1:c.71+11G>A | ENSP00000516359.1:n.71+11G>A | |
| ENST00000706378.1:n.99+11G>A | ||
| ENST00000706379.1:c.71+11G>A | ENSP00000516360.1:n.71+11G>A | |
| ENST00000706380.1:c.71+11G>A | ENSP00000516361.1:n.71+11G>A | |
| ENST00000706381.1:n.96+11G>A | ||
| ENST00000706382.1:n.96+11G>A | ||
| ENST00000706383.1:n.96+11G>A | ||
| ENST00000706384.1:c.71+11G>A | ENSP00000516362.1:n.71+11G>A | |
| ENST00000706385.1:c.71+11G>A | ENSP00000516363.1:n.71+11G>A | |
| ENST00000706386.1:c.71+11G>A | ENSP00000516364.1:n.71+11G>A | |
| ENST00000706387.1:c.71+11G>A | ENSP00000516365.1:n.71+11G>A | |
| ENST00000706388.1:c.71+11G>A | ENSP00000516366.1:n.71+11G>A | |
| ENST00000706389.1:n.86+11G>A | ||
| ENST00000706390.1:c.71+11G>A | ENSP00000516367.1:n.71+11G>A | |
| ENST00000371717.8:c.71+11G>A MANE Select | ENSP00000360782.3:n.71+11G>A | |
| ENST00000371717.7:c.71+11G>A | ENSP00000360782.3:n.71+11G>A | |
| ENST00000371720.5:n.82+11G>A | ||
| ENST00000399219.7:c.-228+11G>A | ENSP00000416702.2:n.-228+11G>A | |
| ENST00000612553.4:n.99+11G>A | ||
| ENST00000614402.4:n.66+11G>A | ||
| ENST00000619192.4:n.96+11G>A | ||
| ENST00000620412.4:n.82+11G>A | ||
| ENST00000622209.4:n.80+11G>A | ||
| NM_001282944.1:c.-228+11G>A | NP_001269873.1:n.-228+11G>A | |
| NM_001282946.1:c.-228+11G>A | NP_001269875.1:n.-228+11G>A | |
| NM_015160.2:c.71+11G>A | NP_055975.1:n.71+11G>A | |
| XM_005266059.3:c.71+11G>A | XP_005266116.1:n.71+11G>A | |
| XM_005266059.4:c.71+11G>A | XP_005266116.1:n.71+11G>A | |
| XM_017014543.2:c.-504+11G>A | XP_016870032.1:n.-504+11G>A | |
| NM_015160.3:c.71+11G>A MANE Select | NP_055975.1:n.71+11G>A | |
| NM_001282944.2:c.-228+11G>A | NP_001269873.1:n.-228+11G>A | |
| NM_001282946.2:c.-228+11G>A | NP_001269875.1:n.-228+11G>A |