Linked Data
ClinVar Variation Id:
286878
dbSNP Id:
rs572861590
ExAC:
6:24495592 G / A
gnomAD v2:
6-24495592-G-A
gnomAD v3:
6-24495364-G-A
gnomAD v4:
6-24495364-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.24495364G>A , CM000668.2:g.24495364G>A | GRCh38 |
| NC_000006.11:g.24495592G>A , CM000668.1:g.24495592G>A | GRCh37 |
| NC_000006.10:g.24603571G>A | NCBI36 |
| NG_008161.1:g.5396G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000357578.8:c.354+14G>A MANE Select | ENSP00000350191.3:n.354+14G>A | |
| ENST00000672352.1:c.117+14G>A | ENSP00000500876.1:n.117+14G>A | |
| ENST00000672557.1:c.115+14G>A | ||
| ENST00000672652.1:c.275+14G>A | ||
| ENST00000348925.2:c.354+14G>A | ENSP00000314649.3:n.354+14G>A | |
| ENST00000357578.7:c.354+14G>A | ENSP00000350191.3:n.354+14G>A | |
| ENST00000491546.5:c.354+14G>A | ENSP00000417687.1:n.354+14G>A | |
| NM_001080.3:c.354+14G>A MANE Select | NP_001071.1:n.354+14G>A | |
| NM_170740.1:c.354+14G>A | NP_733936.1:n.354+14G>A | |
| NM_001368954.1:c.354+14G>A | NP_001355883.1:n.354+14G>A |