Linked Data
ClinVar Variation Id:
321863
dbSNP Id:
rs375105159
ExAC:
17:15164083 G / A
gnomAD v2:
17-15164083-G-A
gnomAD v3:
17-15260766-G-A
gnomAD v4:
17-15260766-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.15260766G>A , CM000679.2:g.15260766G>A | GRCh38 |
| NC_000017.10:g.15164083G>A , CM000679.1:g.15164083G>A | GRCh37 |
| NC_000017.9:g.15104808G>A | NCBI36 |
| NG_007949.1:g.9562C>T , LRG_263:g.9562C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000312280.9:c.-34-5C>T MANE Select | ENSP00000308937.3:n.-34-5C>T | |
| ENST00000395936.7:c.-34-5C>T | ENSP00000379268.1:n.-34-5C>T | |
| ENST00000395938.7:c.-34-5C>T | ENSP00000379269.3:n.-34-5C>T | |
| ENST00000426385.4:c.-34-5C>T | ENSP00000409824.3:n.-34-5C>T | |
| ENST00000471150.3:n.156-5C>T | ||
| ENST00000494511.7:c.-27+4388C>T | ENSP00000462782.2:n.-27+4388C>T | |
| ENST00000580584.3:c.-126-1573C>T | ENSP00000464468.3:n.-126-1573C>T | |
| ENST00000612492.5:c.-30-9C>T | ENSP00000484631.1:n.-30-9C>T | |
| ENST00000643451.2:c.-34-5C>T | ENSP00000494628.1:n.-34-5C>T | |
| ENST00000644020.1:c.-39C>T | ENSP00000496522.1:n.-39C>T | |
| ENST00000646419.2:c.-34-5C>T | ENSP00000494871.1:n.-34-5C>T | |
| ENST00000674651.1:c.-34-5C>T | ENSP00000501727.1:n.-34-5C>T | |
| ENST00000674673.1:c.-34-5C>T | ENSP00000501804.1:n.-34-5C>T | |
| ENST00000674707.1:c.-27+1663C>T | ENSP00000502250.1:n.-27+1663C>T | |
| ENST00000674868.1:c.-34-5C>T | ENSP00000502835.1:n.-34-5C>T | |
| ENST00000674947.1:c.-39C>T | ENSP00000501580.1:n.-39C>T | |
| ENST00000675350.1:c.-34-5C>T | ENSP00000501557.1:n.-34-5C>T | |
| ENST00000675808.1:c.-39C>T | ENSP00000502310.1:n.-39C>T | |
| ENST00000675819.1:c.-34-5C>T | ENSP00000502018.1:n.-34-5C>T | |
| ENST00000675854.1:c.-126-1573C>T | ENSP00000502324.1:n.-126-1573C>T | |
| ENST00000675950.1:c.-34-5C>T | ENSP00000501546.1:n.-34-5C>T | |
| ENST00000676161.1:c.-34-5C>T | ENSP00000501766.1:n.-34-5C>T | |
| ENST00000676221.1:c.-30-9C>T | ENSP00000502601.1:n.-30-9C>T | |
| ENST00000312280.7:c.-34-5C>T | ENSP00000308937.3:n.-34-5C>T | |
| ENST00000395936.5:c.-34-5C>T | ENSP00000379268.1:n.-34-5C>T | |
| ENST00000395938.6:c.-34-5C>T | ENSP00000379269.2:n.-34-5C>T | |
| ENST00000426385.3:c.-34-5C>T | ENSP00000409824.3:n.-34-5C>T | |
| ENST00000471150.2:n.156-5C>T | ||
| ENST00000494511.5:c.-2+4388C>T | ENSP00000462782.1:n.-2+4388C>T | |
| ENST00000580497.1:n.3C>T | ||
| ENST00000580584.1:c.-101-1573C>T | ENSP00000464468.1:n.-101-1573C>T | |
| ENST00000612492.4:c.-34-5C>T | ENSP00000484631.1:n.-34-5C>T | |
| NM_000304.3:c.-34-5C>T | NP_000295.1:n.-34-5C>T | |
| NM_001281455.1:c.-34-5C>T | NP_001268384.1:n.-34-5C>T | |
| NM_001281456.1:c.-30-9C>T | NP_001268385.1:n.-30-9C>T | |
| NM_153321.2:c.-34-5C>T | NP_696996.1:n.-34-5C>T | |
| NM_153322.2:c.-39C>T | NP_696997.1:n.-39C>T | |
| NR_104017.1:n.205-1573C>T | ||
| NR_104018.1:n.204+4388C>T | ||
| XM_011523943.1:c.-34-5C>T | XP_011522245.1:n.-34-5C>T | |
| NM_001330143.1:c.-34-5C>T | NP_001317072.1:n.-34-5C>T | |
| XM_024450806.1:c.-34-5C>T | XP_024306574.1:n.-34-5C>T | |
| NM_000304.4:c.-34-5C>T MANE Select | NP_000295.1:n.-34-5C>T | |
| NM_001281456.2:c.-30-9C>T | NP_001268385.1:n.-30-9C>T | |
| NM_001330143.2:c.-34-5C>T | NP_001317072.1:n.-34-5C>T | |
| NM_153321.3:c.-34-5C>T | NP_696996.1:n.-34-5C>T | |
| NM_153322.3:c.-39C>T | NP_696997.1:n.-39C>T | |
| NR_104017.2:n.174-1573C>T | ||
| NR_104018.2:n.173+4388C>T | ||
| NM_001281455.2:c.-34-5C>T | NP_001268384.1:n.-34-5C>T |