Linked Data
ClinVar Variation Id:
476879
dbSNP Id:
rs752528409
ExAC:
5:148411257 C / T
gnomAD v2:
5-148411257-C-T
gnomAD v3:
5-149031694-C-T
gnomAD v4:
5-149031694-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.149031694C>T , CM000667.2:g.149031694C>T | GRCh38 |
| NC_000005.9:g.148411257C>T , CM000667.1:g.148411257C>T | GRCh37 |
| NC_000005.8:g.148391450C>T | NCBI36 |
| NG_007947.2:g.36481G>A , LRG_269:g.36481G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000502274.2:c.1022-7G>A | ||
| ENST00000515425.6:c.1002-7G>A MANE Select | ENSP00000423660.1:n.1002-7G>A | |
| ENST00000675793.1:c.*286-7G>A | ENSP00000502039.1:n.*286-7G>A | |
| ENST00000676056.1:c.*390-7G>A | ENSP00000501827.1:n.*390-7G>A | |
| ENST00000323829.9:c.*390-7G>A | ENSP00000313025.5:n.*390-7G>A | |
| ENST00000503071.1:n.469-7G>A | ||
| ENST00000504517.5:c.532-7G>A | ENSP00000421779.1:n.532-7G>A | |
| ENST00000504690.5:c.1002-7G>A | ENSP00000425627.1:n.1002-7G>A | |
| ENST00000511307.5:c.*782-7G>A | ENSP00000421420.1:n.*782-7G>A | |
| ENST00000512049.5:c.981-7G>A | ENSP00000421860.1:n.981-7G>A | |
| ENST00000513340.1:n.376-7G>A | ||
| ENST00000513604.5:c.*390-7G>A | ENSP00000423111.1:n.*390-7G>A | |
| ENST00000515425.5:c.1002-7G>A | ENSP00000423660.1:n.1002-7G>A | |
| NM_024577.3:c.1002-7G>A , LRG_269t1:c.1002-7G>A | NP_078853.2:n.1002-7G>A | |
| NM_024577.4:c.1002-7G>A MANE Select | NP_078853.2:n.1002-7G>A |