Linked Data
dbSNP Id:
rs560722289
ExAC:
17:62496622 C / T
gnomAD v2:
17-62496622-C-T
gnomAD v3:
17-64500504-C-T
gnomAD v4:
17-64500504-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.64500504C>T , CM000679.2:g.64500504C>T | GRCh38 |
| NC_000017.10:g.62496622C>T , CM000679.1:g.62496622C>T | GRCh37 |
| NC_000017.9:g.59927084C>T | NCBI36 |
| NG_013029.1:g.1563G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225792.10:c.1441+45G>A MANE Select | ENSP00000225792.5:n.1441+45G>A | |
| ENST00000450599.7:c.1441+45G>A | ENSP00000403085.3:n.1441+45G>A | |
| ENST00000577922.6:c.1441+45G>A | ENSP00000464337.2:n.1441+45G>A | |
| ENST00000578491.2:n.3006G>A | ||
| ENST00000579461.2:n.3561G>A | ||
| ENST00000580026.6:n.2838+45G>A | ||
| ENST00000582326.2:n.4472G>A | ||
| ENST00000583212.2:c.1126+45G>A | ENSP00000463903.2:n.1126+45G>A | |
| ENST00000585111.2:c.1441+45G>A | ENSP00000463168.2:n.1441+45G>A | |
| ENST00000585317.2:n.3648+45G>A | ||
| ENST00000676575.1:n.2961+45G>A | ||
| ENST00000676581.1:c.*191+45G>A | ENSP00000504407.1:n.*191+45G>A | |
| ENST00000676601.1:c.*456+45G>A | ENSP00000504708.1:n.*456+45G>A | |
| ENST00000676785.1:c.1441+45G>A | ENSP00000504794.1:n.1441+45G>A | |
| ENST00000676969.1:n.2213+45G>A | ||
| ENST00000677726.1:c.*1056+45G>A | ENSP00000504260.1:n.*1056+45G>A | |
| ENST00000678110.1:n.3138+45G>A | ||
| ENST00000678757.1:c.*191+45G>A | ENSP00000504731.1:n.*191+45G>A | |
| ENST00000678810.1:n.3272+45G>A | ||
| ENST00000678814.1:c.*277+45G>A | ENSP00000503045.1:n.*277+45G>A | |
| ENST00000678890.1:n.3465+45G>A | ||
| ENST00000225792.9:c.1441+45G>A | ENSP00000225792.5:n.1441+45G>A | |
| ENST00000450599.6:c.1204+45G>A | ENSP00000403085.2:n.1204+45G>A | |
| ENST00000540698.6:c.*1053+45G>A | ENSP00000440276.2:n.*1053+45G>A | |
| ENST00000578758.5:n.474+45G>A | ||
| ENST00000578804.5:c.1441+45G>A | ENSP00000462885.1:n.1441+45G>A | |
| ENST00000580026.5:n.954+45G>A | ||
| ENST00000581230.5:n.2847+45G>A | ||
| ENST00000581237.2:n.450+45G>A | ||
| ENST00000581693.5:c.*1158+45G>A | ENSP00000464566.1:n.*1158+45G>A | |
| NM_004396.3:c.1441+45G>A | NP_004387.1:n.1441+45G>A | |
| XM_005257111.1:c.1441+45G>A | XP_005257168.1:n.1441+45G>A | |
| XM_006721738.1:c.1441+45G>A | XP_006721801.1:n.1441+45G>A | |
| XM_011524456.1:c.1441+45G>A | XP_011522758.1:n.1441+45G>A | |
| XM_011524457.1:c.1217-178G>A | XP_011522759.1:n.1217-178G>A | |
| NM_001320595.1:c.1441+45G>A | NP_001307524.1:n.1441+45G>A | |
| NM_001320596.2:c.1441+45G>A | NP_001307525.1:n.1441+45G>A | |
| NM_001320597.1:c.1441+45G>A | NP_001307526.1:n.1441+45G>A | |
| NM_004396.4:c.1441+45G>A | NP_004387.1:n.1441+45G>A | |
| NM_001320595.2:c.1441+45G>A | NP_001307524.1:n.1441+45G>A | |
| NM_001320597.2:c.1441+45G>A | NP_001307526.1:n.1441+45G>A | |
| NM_004396.5:c.1441+45G>A MANE Select | NP_004387.1:n.1441+45G>A | |
| NM_001320596.3:c.1441+45G>A | NP_001307525.1:n.1441+45G>A |