Linked Data
ClinVar Variation Id:
302356
ClinVar RCV Id:
RCV000400986
dbSNP Id:
rs886047651
gnomAD v3:
11-110296455-G-A
gnomAD v4:
11-110296455-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.110296455G>A , CM000673.2:g.110296455G>A | GRCh38 |
| NC_000011.9:g.110167180G>A , CM000673.1:g.110167180G>A | GRCh37 |
| NC_000011.8:g.109672390G>A | NCBI36 |
| NG_023044.1:g.5258C>T | |
| NG_023044.2:g.5258C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000645495.2:c.-65+12C>T MANE Select | ENSP00000496503.2:n.-65+12C>T | |
| ENST00000645527.1:c.-273+12C>T | ENSP00000496121.1:n.-273+12C>T | |
| ENST00000646663.1:c.-65+12C>T | ENSP00000494693.1:n.-65+12C>T | |
| ENST00000647231.1:c.-65+12C>T | ENSP00000496414.1:n.-65+12C>T | |
| ENST00000343115.8:c.-65+12C>T | ENSP00000342830.4:n.-65+12C>T | |
| ENST00000405097.5:c.-65+12C>T | ENSP00000384136.1:n.-65+12C>T | |
| ENST00000528498.5:c.-65+12C>T | ENSP00000432112.1:n.-65+12C>T | |
| ENST00000528556.5:c.-65+12C>T | ENSP00000434881.1:n.-65+12C>T | |
| ENST00000528900.5:c.-159+12C>T | ENSP00000433580.1:n.-159+12C>T | |
| ENST00000530131.5:c.-65+12C>T | ENSP00000432829.1:n.-65+12C>T | |
| ENST00000530301.5:c.-65+12C>T | ENSP00000436277.1:n.-65+12C>T | |
| ENST00000530749.5:c.-65+12C>T | ENSP00000437301.1:n.-65+12C>T | |
| ENST00000533678.1:c.-65+12C>T | ENSP00000435930.1:n.-65+12C>T | |
| ENST00000533991.1:c.-22+12C>T | ENSP00000432572.1:n.-22+12C>T | |
| ENST00000534683.1:c.-182+12C>T | ENSP00000431560.1:n.-182+12C>T | |
| ENST00000544551.5:c.-102+12C>T | ENSP00000445826.1:n.-102+12C>T | |
| NM_001260492.1:c.-65+12C>T | NP_001247421.1:n.-65+12C>T | |
| NM_001260493.1:c.-65+12C>T | NP_001247422.1:n.-65+12C>T | |
| NM_001260494.1:c.-102+12C>T | NP_001247423.1:n.-102+12C>T | |
| NM_001260495.1:c.-159+12C>T | NP_001247424.1:n.-159+12C>T | |
| NM_001260496.1:c.-65+12C>T | NP_001247425.1:n.-65+12C>T | |
| NM_002906.3:c.-65+12C>T | NP_002897.1:n.-65+12C>T | |
| NM_001260492.2:c.-65+12C>T | NP_001247421.1:n.-65+12C>T | |
| NM_002906.4:c.-65+12C>T MANE Select | NP_002897.1:n.-65+12C>T | |
| NM_001260493.2:c.-65+12C>T | NP_001247422.1:n.-65+12C>T | |
| NM_001260494.2:c.-102+12C>T | NP_001247423.1:n.-102+12C>T | |
| NM_001260495.2:c.-159+12C>T | NP_001247424.1:n.-159+12C>T | |
| NM_001260496.2:c.-65+12C>T | NP_001247425.1:n.-65+12C>T |