Linked Data
ClinVar Variation Id:
1498237
ClinVar RCV Id:
RCV001996482
dbSNP Id:
rs779701490
gnomAD v4:
14-87988143-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.87988143C>T , CM000676.2:g.87988143C>T | GRCh38 |
| NC_000014.8:g.88454487C>T , CM000676.1:g.88454487C>T | GRCh37 |
| NC_000014.7:g.87524240C>T | NCBI36 |
| NG_011853.2:g.10421G>A | |
| NG_011853.3:g.10421G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000261304.7:c.328+1G>A MANE Select | ENSP00000261304.2:n.328+1G>A | |
| ENST00000261304.6:c.328+1G>A | ENSP00000261304.2:n.328+1G>A | |
| ENST00000393568.8:c.259+1G>A | ENSP00000377198.4:n.259+1G>A | |
| ENST00000393569.6:c.250+1G>A | ENSP00000377199.2:n.250+1G>A | |
| ENST00000474294.6:n.318+1G>A | ||
| ENST00000544807.6:c.160+1G>A | ENSP00000437513.2:n.160+1G>A | |
| ENST00000554372.5:c.328+1G>A | ENSP00000451884.1:n.328+1G>A | |
| ENST00000554916.5:n.207+1G>A | ||
| ENST00000555956.1:n.134G>A | ||
| ENST00000556261.5:n.29+1G>A | ||
| ENST00000556879.5:c.388+1G>A | ENSP00000452208.1:n.388+1G>A | |
| ENST00000557316.5:c.328+1G>A | ENSP00000452314.1:n.328+1G>A | |
| ENST00000622264.4:c.318+1G>A | ||
| NM_000153.3:c.328+1G>A | NP_000144.2:n.328+1G>A | |
| NM_001201401.1:c.259+1G>A | NP_001188330.1:n.259+1G>A | |
| NM_001201402.1:c.250+1G>A | NP_001188331.1:n.250+1G>A | |
| XM_011536618.1:c.160+1G>A | XP_011534920.1:n.160+1G>A | |
| XM_011536618.2:c.160+1G>A | XP_011534920.1:n.160+1G>A | |
| NM_000153.4:c.328+1G>A MANE Select | NP_000144.2:n.328+1G>A | |
| NM_001201401.2:c.259+1G>A | NP_001188330.1:n.259+1G>A | |
| NM_001201402.2:c.250+1G>A | NP_001188331.1:n.250+1G>A |