Linked Data
ClinVar Variation Id:
479039
dbSNP Id:
rs587781375
gnomAD v2:
11-108106565-T-G
gnomAD v4:
11-108235838-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.108235838T>G , CM000673.2:g.108235838T>G | GRCh38 |
| NC_000011.9:g.108106565T>G , CM000673.1:g.108106565T>G | GRCh37 |
| NC_000011.8:g.107611775T>G | NCBI36 |
| NG_009830.1:g.18007T>G , LRG_135:g.18007T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000452508.7:c.496+4T>G | ENSP00000388058.2:n.496+4T>G | |
| ENST00000713593.1:c.496+4T>G | ENSP00000518889.1:n.496+4T>G | |
| ENST00000278616.9:c.496+4T>G | ENSP00000278616.4:n.496+4T>G | |
| ENST00000682147.1:n.630T>G | ||
| ENST00000682430.1:n.595+4T>G | ||
| ENST00000682516.1:n.630+4T>G | ||
| ENST00000682956.1:n.630+4T>G | ||
| ENST00000683174.1:n.646+4T>G | ||
| ENST00000684029.1:c.500T>G | ENSP00000508010.1:p.Met167Arg | |
| ENST00000684037.1:c.496+4T>G | ENSP00000508245.1:n.496+4T>G | |
| ENST00000684061.1:n.630+4T>G | ||
| ENST00000684179.1:n.465+6515T>G | ||
| ENST00000527805.6:c.496+4T>G | ENSP00000435747.2:n.496+4T>G | |
| ENST00000675595.1:c.331+6515T>G | ENSP00000502563.1:n.331+6515T>G | |
| ENST00000675843.1:c.496+4T>G MANE Select | ENSP00000501606.1:n.496+4T>G | |
| ENST00000278616.8:c.496+4T>G | ENSP00000278616.4:n.496+4T>G | |
| ENST00000452508.6:c.496+4T>G | ENSP00000388058.2:n.496+4T>G | |
| ENST00000527805.5:c.496+4T>G | ENSP00000435747.1:n.496+4T>G | |
| ENST00000527891.5:c.331+6515T>G | ENSP00000433955.1:n.331+6515T>G | |
| ENST00000530958.5:c.500T>G | ENSP00000483338.1:p.Met167Arg | |
| NM_000051.3:c.496+4T>G , LRG_135t1:c.496+4T>G | NP_000042.3:n.496+4T>G | |
| XM_005271561.3:c.496+4T>G | XP_005271618.2:n.496+4T>G | |
| XM_005271562.3:c.496+4T>G | XP_005271619.2:n.496+4T>G | |
| XM_006718843.2:c.496+4T>G | XP_006718906.1:n.496+4T>G | |
| XM_011542840.1:c.496+4T>G | XP_011541142.1:n.496+4T>G | |
| XM_011542841.1:c.496+4T>G | XP_011541143.1:n.496+4T>G | |
| XM_011542842.1:c.331+6515T>G | XP_011541144.1:n.331+6515T>G | |
| XM_011542843.1:c.496+4T>G | XP_011541145.1:n.496+4T>G | |
| XM_011542844.1:c.-527+4T>G | XP_011541146.1:n.-527+4T>G | |
| XM_011542846.1:c.496+4T>G | XP_011541148.1:n.496+4T>G | |
| NM_001351834.1:c.496+4T>G | NP_001338763.1:n.496+4T>G | |
| XM_005271562.5:c.496+4T>G | XP_005271619.2:n.496+4T>G | |
| XM_006718843.4:c.496+4T>G | XP_006718906.1:n.496+4T>G | |
| XM_011542840.3:c.496+4T>G | XP_011541142.1:n.496+4T>G | |
| XM_011542842.3:c.331+6515T>G | XP_011541144.1:n.331+6515T>G | |
| XM_011542843.2:c.496+4T>G | XP_011541145.1:n.496+4T>G | |
| XM_011542844.3:c.-527+4T>G | XP_011541146.1:n.-527+4T>G | |
| XM_017017789.2:c.496+4T>G | XP_016873278.1:n.496+4T>G | |
| XM_017017790.2:c.496+4T>G | XP_016873279.1:n.496+4T>G | |
| XM_017017791.1:c.496+4T>G | XP_016873280.1:n.496+4T>G | |
| XM_017017792.2:c.496+4T>G | XP_016873281.1:n.496+4T>G | |
| XR_002957150.1:n.1229+4T>G | ||
| NM_001351834.2:c.496+4T>G | NP_001338763.1:n.496+4T>G | |
| NM_000051.4:c.496+4T>G MANE Select | NP_000042.3:n.496+4T>G |