Linked Data
ClinVar Variation Id:
291565
dbSNP Id:
rs201224213
ExAC:
1:10396811 G / T
gnomAD v2:
1-10396811-G-T
gnomAD v3:
1-10336753-G-T
gnomAD v4:
1-10336753-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.10336753G>T , CM000663.2:g.10336753G>T | GRCh38 |
| NC_000001.10:g.10396811G>T , CM000663.1:g.10396811G>T | GRCh37 |
| NC_000001.9:g.10319398G>T | NCBI36 |
| NG_008069.1:g.131048G>T , LRG_252:g.131048G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696502.1:c.2991+11G>T | ENSP00000512668.1:n.2991+11G>T | |
| ENST00000696503.1:c.3054+11G>T | ENSP00000512669.1:n.3054+11G>T | |
| ENST00000696504.1:c.3054+11G>T | ENSP00000512670.1:n.3054+11G>T | |
| ENST00000676179.1:c.3129+11G>T MANE Select | ENSP00000502065.1:n.3129+11G>T | |
| ENST00000263934.10:c.2991+11G>T | ENSP00000263934.6:n.2991+11G>T | |
| ENST00000377081.5:c.3129+11G>T | ENSP00000366284.1:n.3129+11G>T | |
| ENST00000377086.5:c.3129+11G>T | ENSP00000366290.1:n.3129+11G>T | |
| ENST00000620295.2:c.3087+11G>T | ENSP00000478500.1:n.3087+11G>T | |
| ENST00000622724.3:c.3051+11G>T | ENSP00000480063.1:n.3051+11G>T | |
| NM_015074.3:c.2991+11G>T , LRG_252t1:c.2991+11G>T | NP_055889.2:n.2991+11G>T | |
| NM_001365951.1:c.3129+11G>T | NP_001352880.1:n.3129+11G>T | |
| NM_001365952.1:c.3129+11G>T | NP_001352881.1:n.3129+11G>T | |
| NM_001365951.3:c.3129+11G>T MANE Select | NP_001352880.1:n.3129+11G>T |