Linked Data
dbSNP Id:
rs1484296746
gnomAD v2:
11-108240055-A-G
gnomAD v3:
11-108369328-A-G
gnomAD v4:
11-108369328-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.108369328A>G , CM000673.2:g.108369328A>G | GRCh38 |
| NC_000011.9:g.108240055A>G , CM000673.1:g.108240055A>G | GRCh37 |
| NC_000011.8:g.107745265A>G | NCBI36 |
| NG_009830.1:g.151497A>G , LRG_135:g.151497A>G | |
| NG_054724.1:g.105505T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000524755.5:c.226+23880T>C | ||
| ENST00000525729.5:c.640+16592T>C | ENSP00000433395.1:n.640+16592T>C | |
| ENST00000526725.1:n.271+23880T>C | ||
| ENST00000527531.5:c.*2-13219T>C | ENSP00000431706.1:n.*2-13219T>C | |
| ENST00000615746.4:c.*2-13219T>C | ENSP00000483537.1:n.*2-13219T>C | |
| XM_005271414.3:c.787+16592T>C | XP_005271471.1:n.787+16592T>C | |
| XM_005271415.3:c.731+23880T>C | XP_005271472.1:n.731+23880T>C | |
| XM_011542640.1:c.787+16592T>C | XP_011540942.1:n.787+16592T>C | |
| XM_011542642.1:c.732-20255T>C | XP_011540944.1:n.732-20255T>C | |
| XM_011542643.1:c.731+23880T>C | XP_011540945.1:n.731+23880T>C | |
| NM_001330368.1:c.640+16592T>C | NP_001317297.1:n.640+16592T>C | |
| NM_001351110.1:c.694+16592T>C | NP_001338039.1:n.694+16592T>C | |
| NR_147053.2:n.1107-13219T>C | ||
| XM_005271414.4:c.787+16592T>C | XP_005271471.1:n.787+16592T>C | |
| XM_005271415.4:c.731+23880T>C | XP_005271472.1:n.731+23880T>C | |
| XM_011542640.2:c.787+16592T>C | XP_011540942.1:n.787+16592T>C | |
| XM_011542643.2:c.731+23880T>C | XP_011540945.1:n.731+23880T>C | |
| XM_017017247.1:c.903+13732T>C | XP_016872736.1:n.903+13732T>C | |
| NM_001330368.2:c.640+16592T>C | NP_001317297.1:n.640+16592T>C | |
| NM_001351110.2:c.694+16592T>C | NP_001338039.1:n.694+16592T>C | |
| NR_147053.3:n.1105-13219T>C |