Linked Data
dbSNP Id:
rs552460503
ExAC:
17:62496633 G / A
gnomAD v2:
17-62496633-G-A
gnomAD v3:
17-64500515-G-A
gnomAD v4:
17-64500515-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.64500515G>A , CM000679.2:g.64500515G>A | GRCh38 |
| NC_000017.10:g.62496633G>A , CM000679.1:g.62496633G>A | GRCh37 |
| NC_000017.9:g.59927095G>A | NCBI36 |
| NG_013029.1:g.1552C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225792.10:c.1441+34C>T MANE Select | ENSP00000225792.5:n.1441+34C>T | |
| ENST00000450599.7:c.1441+34C>T | ENSP00000403085.3:n.1441+34C>T | |
| ENST00000577922.6:c.1441+34C>T | ENSP00000464337.2:n.1441+34C>T | |
| ENST00000578491.2:n.2995C>T | ||
| ENST00000579461.2:n.3550C>T | ||
| ENST00000580026.6:n.2838+34C>T | ||
| ENST00000582326.2:n.4461C>T | ||
| ENST00000583212.2:c.1126+34C>T | ENSP00000463903.2:n.1126+34C>T | |
| ENST00000585111.2:c.1441+34C>T | ENSP00000463168.2:n.1441+34C>T | |
| ENST00000585317.2:n.3648+34C>T | ||
| ENST00000676575.1:n.2961+34C>T | ||
| ENST00000676581.1:c.*191+34C>T | ENSP00000504407.1:n.*191+34C>T | |
| ENST00000676601.1:c.*456+34C>T | ENSP00000504708.1:n.*456+34C>T | |
| ENST00000676785.1:c.1441+34C>T | ENSP00000504794.1:n.1441+34C>T | |
| ENST00000676969.1:n.2213+34C>T | ||
| ENST00000677726.1:c.*1056+34C>T | ENSP00000504260.1:n.*1056+34C>T | |
| ENST00000678110.1:n.3138+34C>T | ||
| ENST00000678757.1:c.*191+34C>T | ENSP00000504731.1:n.*191+34C>T | |
| ENST00000678810.1:n.3272+34C>T | ||
| ENST00000678814.1:c.*277+34C>T | ENSP00000503045.1:n.*277+34C>T | |
| ENST00000678890.1:n.3465+34C>T | ||
| ENST00000225792.9:c.1441+34C>T | ENSP00000225792.5:n.1441+34C>T | |
| ENST00000450599.6:c.1204+34C>T | ENSP00000403085.2:n.1204+34C>T | |
| ENST00000540698.6:c.*1053+34C>T | ENSP00000440276.2:n.*1053+34C>T | |
| ENST00000578758.5:n.474+34C>T | ||
| ENST00000578804.5:c.1441+34C>T | ENSP00000462885.1:n.1441+34C>T | |
| ENST00000580026.5:n.954+34C>T | ||
| ENST00000581230.5:n.2847+34C>T | ||
| ENST00000581237.2:n.450+34C>T | ||
| ENST00000581693.5:c.*1158+34C>T | ENSP00000464566.1:n.*1158+34C>T | |
| NM_004396.3:c.1441+34C>T | NP_004387.1:n.1441+34C>T | |
| XM_005257111.1:c.1441+34C>T | XP_005257168.1:n.1441+34C>T | |
| XM_006721738.1:c.1441+34C>T | XP_006721801.1:n.1441+34C>T | |
| XM_011524456.1:c.1441+34C>T | XP_011522758.1:n.1441+34C>T | |
| XM_011524457.1:c.1217-189C>T | XP_011522759.1:n.1217-189C>T | |
| NM_001320595.1:c.1441+34C>T | NP_001307524.1:n.1441+34C>T | |
| NM_001320596.2:c.1441+34C>T | NP_001307525.1:n.1441+34C>T | |
| NM_001320597.1:c.1441+34C>T | NP_001307526.1:n.1441+34C>T | |
| NM_004396.4:c.1441+34C>T | NP_004387.1:n.1441+34C>T | |
| NM_001320595.2:c.1441+34C>T | NP_001307524.1:n.1441+34C>T | |
| NM_001320597.2:c.1441+34C>T | NP_001307526.1:n.1441+34C>T | |
| NM_004396.5:c.1441+34C>T MANE Select | NP_004387.1:n.1441+34C>T | |
| NM_001320596.3:c.1441+34C>T | NP_001307525.1:n.1441+34C>T |