Linked Data
ClinVar Variation Id:
2532
ClinVar RCV Id:
RCV000002641
dbSNP Id:
rs587777809
gnomAD v4:
14-88833691-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.88833691A>G , CM000676.2:g.88833691A>G | GRCh38 |
| NC_000014.8:g.89300035A>G , CM000676.1:g.89300035A>G | GRCh37 |
| NC_000014.7:g.88369788A>G | NCBI36 |
| NG_008126.1:g.14058A>G | |
| NG_008126.2:g.14539A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000380656.7:c.115-2A>G MANE Select | ENSP00000370031.2:n.115-2A>G | |
| ENST00000338104.10:c.115-5761A>G | ENSP00000337653.6:n.115-5761A>G | |
| ENST00000345383.9:c.115-2A>G | ENSP00000339486.6:n.115-2A>G | |
| ENST00000346301.8:c.115-5761A>G | ENSP00000298324.6:n.115-5761A>G | |
| ENST00000354441.10:c.114+8870A>G | ENSP00000346427.6:n.114+8870A>G | |
| ENST00000358622.9:c.-448-5761A>G | ENSP00000351439.5:n.-448-5761A>G | |
| ENST00000380656.6:c.115-2A>G | ENSP00000370031.2:n.115-2A>G | |
| ENST00000536576.5:c.115-5761A>G | ENSP00000445067.2:n.115-5761A>G | |
| ENST00000553718.1:c.*149-225A>G | ENSP00000450905.1:n.*149-225A>G | |
| ENST00000554686.5:c.84-5761A>G | ||
| ENST00000555057.5:c.115-5761A>G | ENSP00000450951.1:n.115-5761A>G | |
| ENST00000556077.5:c.115-3217A>G | ENSP00000451034.1:n.115-3217A>G | |
| ENST00000556567.5:n.172-5761A>G | ||
| ENST00000556651.5:c.115-5761A>G | ENSP00000450993.1:n.115-5761A>G | |
| ENST00000614125.4:c.115-5761A>G | ENSP00000482306.1:n.115-5761A>G | |
| ENST00000622513.4:c.115-5761A>G | ENSP00000482721.1:n.115-5761A>G | |
| NM_001288781.1:c.115-5761A>G | NP_001275710.1:n.115-5761A>G | |
| NM_001288782.1:c.-448-5761A>G | NP_001275711.1:n.-448-5761A>G | |
| NM_001288783.1:c.-543-5761A>G | NP_001275712.1:n.-543-5761A>G | |
| NM_144596.3:c.115-2A>G | NP_653197.2:n.115-2A>G | |
| NM_198309.3:c.115-5761A>G | NP_938051.1:n.115-5761A>G | |
| NM_198310.3:c.115-5761A>G | NP_938052.1:n.115-5761A>G | |
| XM_006720035.1:c.115-5761A>G | XP_006720098.1:n.115-5761A>G | |
| XM_006720037.2:c.115-5761A>G | XP_006720100.1:n.115-5761A>G | |
| XM_011536432.1:c.115-5761A>G | XP_011534734.1:n.115-5761A>G | |
| XM_011536433.1:c.115-5761A>G | XP_011534735.1:n.115-5761A>G | |
| XM_011536434.1:c.115-5761A>G | XP_011534736.1:n.115-5761A>G | |
| NM_001366535.1:c.115-5761A>G | NP_001353464.1:n.115-5761A>G | |
| NM_001366536.1:c.115-5761A>G | NP_001353465.1:n.115-5761A>G | |
| NR_159362.1:n.172-5761A>G | ||
| XM_011536433.2:c.115-5761A>G | XP_011534735.1:n.115-5761A>G | |
| XM_011536434.2:c.115-5761A>G | XP_011534736.1:n.115-5761A>G | |
| NM_001366535.2:c.115-5761A>G | NP_001353464.1:n.115-5761A>G | |
| NM_001366536.2:c.115-5761A>G | NP_001353465.1:n.115-5761A>G | |
| NR_159362.2:n.172-5761A>G | ||
| NM_144596.4:c.115-2A>G MANE Select | NP_653197.2:n.115-2A>G |