Linked Data
dbSNP Id:
rs10221833
gnomAD v2:
2-165577164-G-C
gnomAD v3:
2-164720654-G-C
gnomAD v4:
2-164720654-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.164720654G>C , CM000664.2:g.164720654G>C | GRCh38 |
| NC_000002.11:g.165577164G>C , CM000664.1:g.165577164G>C | GRCh37 |
| NC_000002.10:g.165285410G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000409184.8:c.1134+1421C>G | ENSP00000387326.5:n.1134+1421C>G | |
| ENST00000652658.2:c.996+1421C>G MANE Select | ENSP00000498242.1:n.996+1421C>G | |
| ENST00000342193.8:c.996+1421C>G | ENSP00000341360.4:n.996+1421C>G | |
| ENST00000375458.6:c.996+1421C>G | ENSP00000364607.2:n.996+1421C>G | |
| ENST00000392717.6:c.1110+1421C>G | ENSP00000376478.2:n.1110+1421C>G | |
| ENST00000409184.7:c.1115+1421C>G | ||
| ENST00000434366.5:n.366-15549C>G | ||
| ENST00000456171.5:c.1035+1421C>G | ENSP00000416311.1:n.1035+1421C>G | |
| ENST00000491126.6:n.226-15549C>G | ||
| ENST00000493868.5:n.2820+1421C>G | ||
| ENST00000629362.2:c.1194+1421C>G | ENSP00000487041.2:n.1194+1421C>G | |
| NM_001278458.1:c.1194+1421C>G | NP_001265387.1:n.1194+1421C>G | |
| NM_001278460.1:c.1134+1421C>G | NP_001265389.1:n.1134+1421C>G | |
| NM_001278461.1:c.996+1421C>G | NP_001265390.1:n.996+1421C>G | |
| NM_014900.4:c.996+1421C>G | NP_055715.3:n.996+1421C>G | |
| NM_001365670.1:c.1134+1421C>G | NP_001352599.1:n.1134+1421C>G | |
| NM_001365671.1:c.1173+1421C>G | NP_001352600.1:n.1173+1421C>G | |
| NM_001365672.1:c.996+1421C>G | NP_001352601.1:n.996+1421C>G | |
| NM_001365673.1:c.996+1421C>G | NP_001352602.1:n.996+1421C>G | |
| NM_001365674.1:c.1035+1421C>G | NP_001352603.1:n.1035+1421C>G | |
| NM_001365675.1:c.1035+1421C>G | NP_001352604.1:n.1035+1421C>G | |
| NM_001278458.2:c.1194+1421C>G | NP_001265387.1:n.1194+1421C>G | |
| NM_001278460.2:c.1134+1421C>G | NP_001265389.1:n.1134+1421C>G | |
| NM_001278461.2:c.996+1421C>G | NP_001265390.1:n.996+1421C>G | |
| NM_001365670.2:c.1134+1421C>G | NP_001352599.1:n.1134+1421C>G | |
| NM_001365672.2:c.996+1421C>G MANE Select | NP_001352601.1:n.996+1421C>G | |
| NM_001365673.2:c.996+1421C>G | NP_001352602.1:n.996+1421C>G | |
| NM_001365674.2:c.1035+1421C>G | NP_001352603.1:n.1035+1421C>G | |
| NM_001365675.2:c.1035+1421C>G | NP_001352604.1:n.1035+1421C>G | |
| NM_014900.5:c.996+1421C>G | NP_055715.3:n.996+1421C>G |