Linked Data
ClinVar Variation Id:
231535
dbSNP Id:
rs747855862
ExAC:
11:108106396 G / A
gnomAD v2:
11-108106396-G-A
gnomAD v3:
11-108235669-G-A
gnomAD v4:
11-108235669-G-A
ERepo:
CA6264590/MONDO:0016419/020
PubMed:
PMID:10980530
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.108235669G>A , CM000673.2:g.108235669G>A | GRCh38 |
| NC_000011.9:g.108106396G>A , CM000673.1:g.108106396G>A | GRCh37 |
| NC_000011.8:g.107611606G>A | NCBI36 |
| NG_009830.1:g.17838G>A , LRG_135:g.17838G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000452508.7:c.332-1G>A | ENSP00000388058.2:n.332-1G>A | |
| ENST00000713593.1:c.332-1G>A | ENSP00000518889.1:n.332-1G>A | |
| ENST00000278616.9:c.332-1G>A | ENSP00000278616.4:n.332-1G>A | |
| ENST00000682147.1:n.462-1G>A | ||
| ENST00000682430.1:n.431-1G>A | ||
| ENST00000682516.1:n.466-1G>A | ||
| ENST00000682956.1:n.466-1G>A | ||
| ENST00000683174.1:n.482-1G>A | ||
| ENST00000684029.1:c.332-1G>A | ENSP00000508010.1:n.332-1G>A | |
| ENST00000684037.1:c.332-1G>A | ENSP00000508245.1:n.332-1G>A | |
| ENST00000684061.1:n.466-1G>A | ||
| ENST00000684179.1:n.465+6346G>A | ||
| ENST00000527805.6:c.332-1G>A | ENSP00000435747.2:n.332-1G>A | |
| ENST00000675595.1:c.331+6346G>A | ENSP00000502563.1:n.331+6346G>A | |
| ENST00000675843.1:c.332-1G>A MANE Select | ENSP00000501606.1:n.332-1G>A | |
| ENST00000278616.8:c.332-1G>A | ENSP00000278616.4:n.332-1G>A | |
| ENST00000452508.6:c.332-1G>A | ENSP00000388058.2:n.332-1G>A | |
| ENST00000527805.5:c.332-1G>A | ENSP00000435747.1:n.332-1G>A | |
| ENST00000527891.5:c.331+6346G>A | ENSP00000433955.1:n.331+6346G>A | |
| ENST00000530958.5:c.332-1G>A | ENSP00000483338.1:n.332-1G>A | |
| ENST00000601453.2:c.332-1G>A | ENSP00000469471.1:n.332-1G>A | |
| NM_000051.3:c.332-1G>A , LRG_135t1:c.332-1G>A | NP_000042.3:n.332-1G>A | |
| XM_005271561.3:c.332-1G>A | XP_005271618.2:n.332-1G>A | |
| XM_005271562.3:c.332-1G>A | XP_005271619.2:n.332-1G>A | |
| XM_006718843.2:c.332-1G>A | XP_006718906.1:n.332-1G>A | |
| XM_011542840.1:c.332-1G>A | XP_011541142.1:n.332-1G>A | |
| XM_011542841.1:c.332-1G>A | XP_011541143.1:n.332-1G>A | |
| XM_011542842.1:c.331+6346G>A | XP_011541144.1:n.331+6346G>A | |
| XM_011542843.1:c.332-1G>A | XP_011541145.1:n.332-1G>A | |
| XM_011542846.1:c.332-1G>A | XP_011541148.1:n.332-1G>A | |
| NM_001351834.1:c.332-1G>A | NP_001338763.1:n.332-1G>A | |
| XM_005271562.5:c.332-1G>A | XP_005271619.2:n.332-1G>A | |
| XM_006718843.4:c.332-1G>A | XP_006718906.1:n.332-1G>A | |
| XM_011542840.3:c.332-1G>A | XP_011541142.1:n.332-1G>A | |
| XM_011542842.3:c.331+6346G>A | XP_011541144.1:n.331+6346G>A | |
| XM_011542843.2:c.332-1G>A | XP_011541145.1:n.332-1G>A | |
| XM_011542844.3:c.-691-1G>A | XP_011541146.1:n.-691-1G>A | |
| XM_017017789.2:c.332-1G>A | XP_016873278.1:n.332-1G>A | |
| XM_017017790.2:c.332-1G>A | XP_016873279.1:n.332-1G>A | |
| XM_017017791.1:c.332-1G>A | XP_016873280.1:n.332-1G>A | |
| XM_017017792.2:c.332-1G>A | XP_016873281.1:n.332-1G>A | |
| XR_002957150.1:n.1065-1G>A | ||
| NM_001351834.2:c.332-1G>A | NP_001338763.1:n.332-1G>A | |
| NM_000051.4:c.332-1G>A MANE Select | NP_000042.3:n.332-1G>A |