Linked Data
ClinVar Variation Id:
227153
dbSNP Id:
rs183980454
ExAC:
4:6293106 C / T
gnomAD v2:
4-6293106-C-T
gnomAD v3:
4-6291379-C-T
gnomAD v4:
4-6291379-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.6291379C>T , CM000666.2:g.6291379C>T | GRCh38 |
| NC_000004.11:g.6293106C>T , CM000666.1:g.6293106C>T | GRCh37 |
| NC_000004.10:g.6344007C>T | NCBI36 |
| NG_011700.1:g.26530C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682275.1:c.631+12C>T | ENSP00000507852.1:n.631+12C>T | |
| ENST00000683395.1:c.608+25C>T | ||
| ENST00000684087.1:c.631+12C>T | ENSP00000506978.1:n.631+12C>T | |
| ENST00000684700.1:c.643C>T | ENSP00000507806.1:p.His215Tyr | |
| ENST00000506362.2:c.382+12C>T | ENSP00000424103.2:n.382+12C>T | |
| ENST00000673642.1:c.430+12C>T | ENSP00000501242.1:n.430+12C>T | |
| ENST00000673991.1:c.631+12C>T | ENSP00000501033.1:n.631+12C>T | |
| ENST00000226760.5:c.631+12C>T MANE Select | ENSP00000226760.1:n.631+12C>T | |
| ENST00000503569.5:c.631+12C>T | ENSP00000423337.1:n.631+12C>T | |
| ENST00000506362.1:c.228+12C>T | ||
| ENST00000507765.1:n.816+12C>T | ||
| NM_001145853.1:c.631+12C>T | NP_001139325.1:n.631+12C>T | |
| NM_006005.3:c.631+12C>T MANE Select | NP_005996.2:n.631+12C>T | |
| XM_017008586.1:c.640+12C>T | XP_016864075.1:n.640+12C>T |