Linked Data
ClinVar Variation Id:
218640
dbSNP Id:
rs2233218
ExAC:
5:52397199 G / A
gnomAD v2:
5-52397199-G-A
gnomAD v3:
5-53101369-G-A
gnomAD v4:
5-53101369-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.53101369G>A , CM000667.2:g.53101369G>A | GRCh38 |
| NC_000005.9:g.52397199G>A , CM000667.1:g.52397199G>A | GRCh37 |
| NC_000005.8:g.52432956G>A | NCBI36 |
| NG_008435.2:g.13400C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000396954.8:c.367C>T MANE Select | ENSP00000380157.3:p.His123Tyr | |
| ENST00000450852.8:c.*287C>T MANE Plus Clinical | ENSP00000411022.3:n.*287C>T | |
| ENST00000361377.8:c.*146+728C>T | ENSP00000355160.4:n.*146+728C>T | |
| ENST00000396954.7:c.367C>T | ENSP00000380157.3:p.His123Tyr | |
| ENST00000450852.7:c.*287C>T | ENSP00000411022.3:n.*287C>T | |
| ENST00000502402.5:n.1290C>T | ||
| ENST00000508922.5:c.*287C>T | ENSP00000426274.1:n.*287C>T | |
| ENST00000510818.6:c.*287C>T | ENSP00000424267.2:n.*287C>T | |
| ENST00000514553.2:n.552C>T | ||
| ENST00000527216.5:c.*287C>T | ENSP00000435326.1:n.*287C>T | |
| ENST00000582677.5:c.*19-835C>T | ENSP00000462870.1:n.*19-835C>T | |
| ENST00000584946.5:c.*159C>T | ENSP00000464663.1:n.*159C>T | |
| NM_004531.4:c.367C>T | NP_004522.1:p.His123Tyr | |
| NM_176806.3:c.*287C>T | NP_789776.1:n.*287C>T | |
| NM_004531.5:c.367C>T MANE Select | NP_004522.1:p.His123Tyr | |
| NM_176806.4:c.*287C>T MANE Plus Clinical | NP_789776.1:n.*287C>T |