Linked Data
dbSNP Id:
rs188219645
gnomAD v2:
11-108239997-T-C
gnomAD v3:
11-108369270-T-C
gnomAD v4:
11-108369270-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.108369270T>C , CM000673.2:g.108369270T>C | GRCh38 |
| NC_000011.9:g.108239997T>C , CM000673.1:g.108239997T>C | GRCh37 |
| NC_000011.8:g.107745207T>C | NCBI36 |
| NG_009830.1:g.151439T>C , LRG_135:g.151439T>C | |
| NG_054724.1:g.105563A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000524755.5:c.226+23938A>G | ||
| ENST00000525729.5:c.640+16650A>G | ENSP00000433395.1:n.640+16650A>G | |
| ENST00000526725.1:n.271+23938A>G | ||
| ENST00000527531.5:c.*2-13161A>G | ENSP00000431706.1:n.*2-13161A>G | |
| ENST00000615746.4:c.*2-13161A>G | ENSP00000483537.1:n.*2-13161A>G | |
| XM_005271414.3:c.787+16650A>G | XP_005271471.1:n.787+16650A>G | |
| XM_005271415.3:c.731+23938A>G | XP_005271472.1:n.731+23938A>G | |
| XM_011542640.1:c.787+16650A>G | XP_011540942.1:n.787+16650A>G | |
| XM_011542642.1:c.732-20197A>G | XP_011540944.1:n.732-20197A>G | |
| XM_011542643.1:c.731+23938A>G | XP_011540945.1:n.731+23938A>G | |
| NM_001330368.1:c.640+16650A>G | NP_001317297.1:n.640+16650A>G | |
| NM_001351110.1:c.694+16650A>G | NP_001338039.1:n.694+16650A>G | |
| NR_147053.2:n.1107-13161A>G | ||
| XM_005271414.4:c.787+16650A>G | XP_005271471.1:n.787+16650A>G | |
| XM_005271415.4:c.731+23938A>G | XP_005271472.1:n.731+23938A>G | |
| XM_011542640.2:c.787+16650A>G | XP_011540942.1:n.787+16650A>G | |
| XM_011542643.2:c.731+23938A>G | XP_011540945.1:n.731+23938A>G | |
| XM_017017247.1:c.903+13790A>G | XP_016872736.1:n.903+13790A>G | |
| NM_001330368.2:c.640+16650A>G | NP_001317297.1:n.640+16650A>G | |
| NM_001351110.2:c.694+16650A>G | NP_001338039.1:n.694+16650A>G | |
| NR_147053.3:n.1105-13161A>G |