Linked Data
ClinVar Variation Id:
353881
dbSNP Id:
rs146074751
ExAC:
5:52403014 G / A
gnomAD v2:
5-52403014-G-A
gnomAD v3:
5-53107184-G-A
gnomAD v4:
5-53107184-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.53107184G>A , CM000667.2:g.53107184G>A | GRCh38 |
| NC_000005.9:g.52403014G>A , CM000667.1:g.52403014G>A | GRCh37 |
| NC_000005.8:g.52438771G>A | NCBI36 |
| NG_008435.2:g.7585C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000396954.8:c.-10C>T MANE Select | ENSP00000380157.3:n.-10C>T | |
| ENST00000450852.8:c.178C>T MANE Plus Clinical | ENSP00000411022.3:p.Arg60Cys | |
| ENST00000361377.8:c.178C>T | ENSP00000355160.4:p.Arg60Cys | |
| ENST00000396954.7:c.-10C>T | ENSP00000380157.3:n.-10C>T | |
| ENST00000450852.7:c.178C>T | ENSP00000411022.3:p.Arg60Cys | |
| ENST00000502402.5:n.914C>T | ||
| ENST00000508922.5:c.178C>T | ENSP00000426274.1:p.Arg60Cys | |
| ENST00000510818.6:c.178C>T | ENSP00000424267.2:p.Arg60Cys | |
| ENST00000514553.2:n.176C>T | ||
| ENST00000527216.5:c.163C>T | ENSP00000435326.1:p.Arg55Cys | |
| ENST00000582677.5:c.178C>T | ENSP00000462870.1:p.Arg60Cys | |
| ENST00000584946.5:c.178C>T | ENSP00000464663.1:p.Arg60Cys | |
| NM_004531.4:c.-10C>T | NP_004522.1:n.-10C>T | |
| NM_176806.3:c.178C>T | NP_789776.1:p.Arg60Cys | |
| NM_004531.5:c.-10C>T MANE Select | NP_004522.1:n.-10C>T | |
| NM_176806.4:c.178C>T MANE Plus Clinical | NP_789776.1:p.Arg60Cys |