Linked Data
ClinVar Variation Id:
475745
dbSNP Id:
rs376903120
ExAC:
14:50616721 T / C
gnomAD v2:
14-50616721-T-C
gnomAD v3:
14-50150003-T-C
gnomAD v4:
14-50150003-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.50150003T>C , CM000676.2:g.50150003T>C | GRCh38 |
| NC_000014.8:g.50616721T>C , CM000676.1:g.50616721T>C | GRCh37 |
| NC_000014.7:g.49686471T>C | NCBI36 |
| NG_051073.1:g.86691A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000216373.10:c.2384+5A>G MANE Select | ENSP00000216373.5:n.2384+5A>G | |
| ENST00000216373.9:c.2384+5A>G | ENSP00000216373.5:n.2384+5A>G | |
| ENST00000543680.5:c.2285+5A>G | ENSP00000445328.1:n.2285+5A>G | |
| NM_006939.2:c.2384+5A>G | NP_008870.2:n.2384+5A>G | |
| XM_005268021.1:c.2204+5A>G | XP_005268078.1:n.2204+5A>G | |
| XM_011537103.1:c.2345+5A>G | XP_011535405.1:n.2345+5A>G | |
| XM_011537104.1:c.2384+5A>G | XP_011535406.1:n.2384+5A>G | |
| NM_006939.3:c.2384+5A>G | NP_008870.2:n.2384+5A>G | |
| NM_006939.4:c.2384+5A>G MANE Select | NP_008870.2:n.2384+5A>G |