Linked Data
ClinVar Variation Id:
416789
ClinVar RCV Id:
RCV000456190
RCV000614118
RCV001081441
RCV001173928
RCV001122570
RCV001543104
RCV004535491
dbSNP Id:
rs147885521
ExAC:
17:15162404 G / T
gnomAD v2:
17-15162404-G-T
gnomAD v3:
17-15259087-G-T
gnomAD v4:
17-15259087-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.15259087G>T , CM000679.2:g.15259087G>T | GRCh38 |
| NC_000017.10:g.15162404G>T , CM000679.1:g.15162404G>T | GRCh37 |
| NC_000017.9:g.15103129G>T | NCBI36 |
| NG_007949.1:g.11241C>A , LRG_263:g.11241C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000312280.9:c.178+7C>A MANE Select | ENSP00000308937.3:n.178+7C>A | |
| ENST00000395936.7:c.178+7C>A | ENSP00000379268.1:n.178+7C>A | |
| ENST00000395938.7:c.178+7C>A | ENSP00000379269.3:n.178+7C>A | |
| ENST00000426385.4:c.178+7C>A | ENSP00000409824.3:n.178+7C>A | |
| ENST00000494511.7:c.-27+6067C>A | ENSP00000462782.2:n.-27+6067C>A | |
| ENST00000580584.3:c.-27+7C>A | ENSP00000464468.3:n.-27+7C>A | |
| ENST00000612492.5:c.178+7C>A | ENSP00000484631.1:n.178+7C>A | |
| ENST00000643451.2:c.178+7C>A | ENSP00000494628.1:n.178+7C>A | |
| ENST00000644020.1:c.178+7C>A | ENSP00000496522.1:n.178+7C>A | |
| ENST00000646419.2:c.178+7C>A | ENSP00000494871.1:n.178+7C>A | |
| ENST00000674651.1:c.178+7C>A | ENSP00000501727.1:n.178+7C>A | |
| ENST00000674673.1:c.178+7C>A | ENSP00000501804.1:n.178+7C>A | |
| ENST00000674707.1:c.-27+3342C>A | ENSP00000502250.1:n.-27+3342C>A | |
| ENST00000674868.1:c.178+7C>A | ENSP00000502835.1:n.178+7C>A | |
| ENST00000674871.1:n.194+7C>A | ||
| ENST00000674947.1:c.178+7C>A | ENSP00000501580.1:n.178+7C>A | |
| ENST00000675197.1:n.158+7C>A | ||
| ENST00000675350.1:c.178+7C>A | ENSP00000501557.1:n.178+7C>A | |
| ENST00000675551.1:c.178+7C>A | ENSP00000501945.1:n.178+7C>A | |
| ENST00000675808.1:c.178+7C>A | ENSP00000502310.1:n.178+7C>A | |
| ENST00000675819.1:c.178+7C>A | ENSP00000502018.1:n.178+7C>A | |
| ENST00000675854.1:c.-27+7C>A | ENSP00000502324.1:n.-27+7C>A | |
| ENST00000675950.1:c.178+7C>A | ENSP00000501546.1:n.178+7C>A | |
| ENST00000676161.1:c.178+7C>A | ENSP00000501766.1:n.178+7C>A | |
| ENST00000676221.1:c.178+7C>A | ENSP00000502601.1:n.178+7C>A | |
| ENST00000676329.1:c.178+7C>A | ENSP00000501698.1:n.178+7C>A | |
| ENST00000312280.7:c.178+7C>A | ENSP00000308937.3:n.178+7C>A | |
| ENST00000395936.5:c.178+7C>A | ENSP00000379268.1:n.178+7C>A | |
| ENST00000395938.6:c.178+7C>A | ENSP00000379269.2:n.178+7C>A | |
| ENST00000426385.3:c.178+7C>A | ENSP00000409824.3:n.178+7C>A | |
| ENST00000494511.5:c.-2+6067C>A | ENSP00000462782.1:n.-2+6067C>A | |
| ENST00000580497.1:n.226C>A | ||
| ENST00000580584.1:c.-2+7C>A | ENSP00000464468.1:n.-2+7C>A | |
| ENST00000612492.4:c.178+7C>A | ENSP00000484631.1:n.178+7C>A | |
| NM_000304.3:c.178+7C>A | NP_000295.1:n.178+7C>A | |
| NM_001281455.1:c.178+7C>A | NP_001268384.1:n.178+7C>A | |
| NM_001281456.1:c.178+7C>A | NP_001268385.1:n.178+7C>A | |
| NM_153321.2:c.178+7C>A | NP_696996.1:n.178+7C>A | |
| NM_153322.2:c.178+7C>A | NP_696997.1:n.178+7C>A | |
| NR_104017.1:n.304+7C>A | ||
| NR_104018.1:n.204+6067C>A | ||
| XM_011523943.1:c.178+7C>A | XP_011522245.1:n.178+7C>A | |
| NM_001330143.1:c.178+7C>A | NP_001317072.1:n.178+7C>A | |
| XM_024450806.1:c.178+7C>A | XP_024306574.1:n.178+7C>A | |
| NM_000304.4:c.178+7C>A MANE Select | NP_000295.1:n.178+7C>A | |
| NM_001281456.2:c.178+7C>A | NP_001268385.1:n.178+7C>A | |
| NM_001330143.2:c.178+7C>A | NP_001317072.1:n.178+7C>A | |
| NM_153321.3:c.178+7C>A | NP_696996.1:n.178+7C>A | |
| NM_153322.3:c.178+7C>A | NP_696997.1:n.178+7C>A | |
| NR_104017.2:n.273+7C>A | ||
| NR_104018.2:n.173+6067C>A | ||
| NM_001281455.2:c.178+7C>A | NP_001268384.1:n.178+7C>A |