Linked Data
ClinVar Variation Id:
180662
dbSNP Id:
rs756132866
ExAC:
16:14687157 C / A
gnomAD v2:
16-14687157-C-A
gnomAD v4:
16-14593300-C-A
PubMed:
PMID:25893599
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.14593300C>A , CM000678.2:g.14593300C>A | GRCh38 |
| NC_000016.9:g.14687157C>A , CM000678.1:g.14687157C>A | GRCh37 |
| NC_000016.8:g.14594658C>A | NCBI36 |
| NG_042871.1:g.41972G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000697471.1:n.1369+1G>T | ||
| ENST00000697472.1:n.959+1G>T | ||
| ENST00000697473.1:n.2563+1G>T | ||
| ENST00000697474.1:c.918+1G>T | ENSP00000513329.1:n.918+1G>T | |
| ENST00000697475.1:n.1073+1G>T | ||
| ENST00000697476.1:n.1051+1G>T | ||
| ENST00000437198.7:c.918+1G>T MANE Select | ENSP00000387911.2:n.918+1G>T | |
| ENST00000563641.6:c.*682+1G>T | ENSP00000458103.1:n.*682+1G>T | |
| ENST00000564113.6:n.1028+1G>T | ||
| ENST00000650960.1:c.918+1G>T | ENSP00000499110.1:n.918+1G>T | |
| ENST00000650990.1:c.918+1G>T | ENSP00000498741.1:n.918+1G>T | |
| ENST00000651027.1:c.918+1G>T | ENSP00000498640.1:n.918+1G>T | |
| ENST00000651049.1:c.918+1G>T | ENSP00000498644.1:n.918+1G>T | |
| ENST00000651241.1:n.1944+1G>T | ||
| ENST00000651300.1:c.*812+1G>T | ENSP00000498294.1:n.*812+1G>T | |
| ENST00000651348.1:c.918+1G>T | ENSP00000498315.1:n.918+1G>T | |
| ENST00000651634.1:c.918+1G>T | ENSP00000499078.1:n.918+1G>T | |
| ENST00000651760.1:c.719G>T | ||
| ENST00000651865.1:c.768+1G>T | ENSP00000498567.1:n.768+1G>T | |
| ENST00000651913.1:c.865+1G>T | ||
| ENST00000652051.1:c.918+1G>T | ENSP00000498898.1:n.918+1G>T | |
| ENST00000652066.1:c.623+1G>T | ||
| ENST00000652411.1:n.1075+1G>T | ||
| ENST00000652501.1:c.918+1G>T | ENSP00000498261.1:n.918+1G>T | |
| ENST00000652541.1:c.*652+1G>T | ENSP00000499206.1:n.*652+1G>T | |
| ENST00000652727.1:c.918+1G>T | ENSP00000498650.1:n.918+1G>T | |
| ENST00000341484.11:c.735+1G>T | ENSP00000345456.7:n.735+1G>T | |
| ENST00000420015.6:c.780+1G>T | ENSP00000410525.2:n.780+1G>T | |
| ENST00000437198.6:c.918+1G>T | ENSP00000387911.2:n.918+1G>T | |
| ENST00000539279.5:c.393+1G>T | ENSP00000444381.1:n.393+1G>T | |
| ENST00000563641.5:c.*652+1G>T | ENSP00000458103.1:n.*652+1G>T | |
| ENST00000569444.5:c.383+1G>T | ||
| NM_001134477.2:c.735+1G>T | NP_001127949.1:n.735+1G>T | |
| NM_001242992.1:c.780+1G>T | NP_001229921.1:n.780+1G>T | |
| NM_002582.3:c.918+1G>T | NP_002573.1:n.918+1G>T | |
| XM_011522510.1:c.918+1G>T | XP_011520812.1:n.918+1G>T | |
| XM_011522511.1:c.918+1G>T | XP_011520813.1:n.918+1G>T | |
| XM_011522512.1:c.918+1G>T | XP_011520814.1:n.918+1G>T | |
| XM_011522513.1:c.735+1G>T | XP_011520815.1:n.735+1G>T | |
| XM_011522514.1:c.918+1G>T | XP_011520816.1:n.918+1G>T | |
| NM_002582.4:c.918+1G>T MANE Select | NP_002573.1:n.918+1G>T | |
| XM_011522510.3:c.918+1G>T | XP_011520812.1:n.918+1G>T | |
| XM_011522511.2:c.918+1G>T | XP_011520813.1:n.918+1G>T | |
| XM_011522513.2:c.735+1G>T | XP_011520815.1:n.735+1G>T | |
| XM_011522514.2:c.918+1G>T | XP_011520816.1:n.918+1G>T | |
| XM_017023258.2:c.840+6604G>T | XP_016878747.1:n.840+6604G>T | |
| XM_017023259.2:c.125+1G>T | XP_016878748.1:n.125+1G>T | |
| XM_017023260.1:c.125+1G>T | XP_016878749.1:n.125+1G>T | |
| XM_024450292.1:c.125+1G>T | XP_024306060.1:n.125+1G>T | |
| XR_001751906.2:n.1079+1G>T | ||
| XR_001751907.2:n.1079+1G>T | ||
| NM_001134477.3:c.735+1G>T | NP_001127949.1:n.735+1G>T | |
| NM_001242992.2:c.780+1G>T | NP_001229921.1:n.780+1G>T |