Linked Data
ClinVar Variation Id:
353877
dbSNP Id:
rs777565219
ExAC:
5:52397305 G / A
gnomAD v2:
5-52397305-G-A
gnomAD v3:
5-53101475-G-A
gnomAD v4:
5-53101475-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.53101475G>A , CM000667.2:g.53101475G>A | GRCh38 |
| NC_000005.9:g.52397305G>A , CM000667.1:g.52397305G>A | GRCh37 |
| NC_000005.8:g.52433062G>A | NCBI36 |
| NG_008435.2:g.13294C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000396954.8:c.261C>T MANE Select | ENSP00000380157.3:p.Val87= | |
| ENST00000450852.8:c.*181C>T MANE Plus Clinical | ENSP00000411022.3:n.*181C>T | |
| ENST00000361377.8:c.*146+622C>T | ENSP00000355160.4:n.*146+622C>T | |
| ENST00000396954.7:c.261C>T | ENSP00000380157.3:p.Val87= | |
| ENST00000450852.7:c.*181C>T | ENSP00000411022.3:n.*181C>T | |
| ENST00000502402.5:n.1184C>T | ||
| ENST00000508922.5:c.*181C>T | ENSP00000426274.1:n.*181C>T | |
| ENST00000510818.6:c.*181C>T | ENSP00000424267.2:n.*181C>T | |
| ENST00000514553.2:n.446C>T | ||
| ENST00000527216.5:c.*181C>T | ENSP00000435326.1:n.*181C>T | |
| ENST00000582677.5:c.*19-941C>T | ENSP00000462870.1:n.*19-941C>T | |
| ENST00000584946.5:c.*53C>T | ENSP00000464663.1:n.*53C>T | |
| NM_004531.4:c.261C>T | NP_004522.1:p.Val87= | |
| NM_176806.3:c.*181C>T | NP_789776.1:n.*181C>T | |
| NM_004531.5:c.261C>T MANE Select | NP_004522.1:p.Val87= | |
| NM_176806.4:c.*181C>T MANE Plus Clinical | NP_789776.1:n.*181C>T |