Linked Data
ClinVar Variation Id:
323090
dbSNP Id:
rs147564962
ExAC:
17:39659321 G / A
gnomAD v2:
17-39659321-G-A
gnomAD v3:
17-41503069-G-A
gnomAD v4:
17-41503069-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41503069G>A , CM000679.2:g.41503069G>A | GRCh38 |
| NC_000017.10:g.39659321G>A , CM000679.1:g.39659321G>A | GRCh37 |
| NC_000017.9:g.36912847G>A | NCBI36 |
| NG_008406.1:g.7545C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000246635.8:c.765C>T MANE Select | ENSP00000246635.3:p.Val255= | |
| ENST00000246635.7:c.765C>T | ENSP00000246635.3:p.Val255= | |
| ENST00000336861.7:c.765C>T | ENSP00000336604.3:p.Val255= | |
| ENST00000464634.2:c.*362C>T | ENSP00000466525.1:n.*362C>T | |
| ENST00000468313.5:n.601C>T | ||
| ENST00000587435.1:c.486C>T | ENSP00000467833.1:p.Val162= | |
| ENST00000587544.5:c.765C>T | ENSP00000468221.1:p.Val255= | |
| ENST00000590425.1:c.444C>T | ENSP00000466465.1:p.Val148= | |
| NM_002274.3:c.765C>T | NP_002265.2:p.Val255= | |
| NM_153490.2:c.765C>T | NP_705694.2:p.Val255= | |
| NM_153490.3:c.765C>T MANE Select | NP_705694.3:p.Val255= | |
| NM_002274.4:c.765C>T | NP_002265.3:p.Val255= |