Linked Data
ClinVar Variation Id:
223105
ClinVar RCV Id:
RCV002517412
dbSNP Id:
rs147014855
ExAC:
8:104415519 C / T
gnomAD v2:
8-104415519-C-T
gnomAD v3:
8-103403291-C-T
gnomAD v4:
8-103403291-C-T
PubMed:
PMID:26933868
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.103403291C>T , CM000670.2:g.103403291C>T | GRCh38 |
| NC_000008.10:g.104415519C>T , CM000670.1:g.104415519C>T | GRCh37 |
| NC_000008.9:g.104484695C>T | NCBI36 |
| NG_047200.1:g.17045G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000707124.1:c.494G>A | ENSP00000516752.1:p.Trp165Ter | |
| ENST00000297578.9:c.425G>A MANE Select | ENSP00000297578.4:p.Trp142Ter | |
| ENST00000649416.1:c.272G>A | ENSP00000496817.1:p.Trp91Ter | |
| ENST00000297578.8:c.425G>A | ENSP00000297578.4:p.Trp142Ter | |
| ENST00000521645.5:c.392-1237G>A | ENSP00000430989.1:n.392-1237G>A | |
| ENST00000523256.6:c.306-1237G>A | ENSP00000427737.1:n.306-1237G>A | |
| ENST00000523866.1:c.339G>A | ENSP00000430371.1:p.Met113Ile | |
| NM_030780.4:c.425G>A | NP_110407.2:p.Trp142Ter | |
| NR_102337.1:n.737G>A | ||
| NR_102338.1:n.932G>A | ||
| NM_030780.5:c.425G>A MANE Select | NP_110407.2:p.Trp142Ter | |
| NR_102337.2:n.509G>A | ||
| NR_102338.2:n.704G>A |