Linked Data
ClinVar Variation Id:
264994
dbSNP Id:
rs150511103
ExAC:
12:53701835 C / T
gnomAD v2:
12-53701835-C-T
gnomAD v3:
12-53308051-C-T
gnomAD v4:
12-53308051-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.53308051C>T , CM000674.2:g.53308051C>T | GRCh38 |
| NC_000012.11:g.53701835C>T , CM000674.1:g.53701835C>T | GRCh37 |
| NC_000012.10:g.51988102C>T | NCBI36 |
| NG_016775.1:g.18578G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000209873.9:c.1331+1G>A MANE Select | ENSP00000209873.4:n.1331+1G>A | |
| ENST00000546562.6:n.2395+1G>A | ||
| ENST00000547238.6:n.1967+1G>A | ||
| ENST00000547520.6:n.1326G>A | ||
| ENST00000547757.2:c.381G>A | ENSP00000448020.2:p.Trp127Ter | |
| ENST00000548880.2:n.1781+1G>A | ||
| ENST00000548931.6:c.851+1G>A | ENSP00000457518.1:n.851+1G>A | |
| ENST00000549450.6:n.1265+1G>A | ||
| ENST00000552161.6:n.2288G>A | ||
| ENST00000672797.1:n.1820+1G>A | ||
| ENST00000672900.1:n.2422G>A | ||
| ENST00000209873.8:c.1331+1G>A | ENSP00000209873.4:n.1331+1G>A | |
| ENST00000394384.7:c.1232+1G>A | ENSP00000377908.3:n.1232+1G>A | |
| ENST00000548931.5:c.851+1G>A | ENSP00000457518.1:n.851+1G>A | |
| ENST00000550033.5:n.587G>A | ||
| ENST00000550286.5:c.959+1G>A | ENSP00000446885.1:n.959+1G>A | |
| ENST00000552876.5:n.1674+1G>A | ||
| NM_001173466.1:c.1232+1G>A | NP_001166937.1:n.1232+1G>A | |
| NM_015665.5:c.1331+1G>A | NP_056480.1:n.1331+1G>A | |
| XM_006719617.2:c.1346+1G>A | XP_006719680.1:n.1346+1G>A | |
| XM_011538777.1:c.1346+1G>A | XP_011537079.1:n.1346+1G>A | |
| XM_011538778.1:c.1331+1G>A | XP_011537080.1:n.1331+1G>A | |
| XM_011538779.1:c.1247+1G>A | XP_011537081.1:n.1247+1G>A | |
| XM_011538780.1:c.1232+1G>A | XP_011537082.1:n.1232+1G>A | |
| XM_011538781.1:c.680+1G>A | XP_011537083.1:n.680+1G>A | |
| XM_011538778.2:c.1331+1G>A | XP_011537080.1:n.1331+1G>A | |
| XM_011538780.2:c.1232+1G>A | XP_011537082.1:n.1232+1G>A | |
| XR_001748875.2:n.1388+1G>A | ||
| NM_015665.6:c.1331+1G>A MANE Select | NP_056480.1:n.1331+1G>A | |
| NM_001173466.2:c.1232+1G>A | NP_001166937.1:n.1232+1G>A |