Linked Data
ClinVar Variation Id:
353884
dbSNP Id:
rs572637154
ExAC:
5:52405546 C / T
gnomAD v2:
5-52405546-C-T
gnomAD v3:
5-53109716-C-T
gnomAD v4:
5-53109716-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.53109716C>T , CM000667.2:g.53109716C>T | GRCh38 |
| NC_000005.9:g.52405546C>T , CM000667.1:g.52405546C>T | GRCh37 |
| NC_000005.8:g.52441303C>T | NCBI36 |
| NG_008435.2:g.5053G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000396954.8:c.-635G>A MANE Select | ENSP00000380157.3:n.-635G>A | |
| ENST00000450852.8:c.14G>A MANE Plus Clinical | ENSP00000411022.3:p.Cys5Tyr | |
| ENST00000361377.8:c.14G>A | ENSP00000355160.4:p.Cys5Tyr | |
| ENST00000396954.7:c.-635G>A | ENSP00000380157.3:n.-635G>A | |
| ENST00000450852.7:c.14G>A | ENSP00000411022.3:p.Cys5Tyr | |
| ENST00000508922.5:c.14G>A | ENSP00000426274.1:p.Cys5Tyr | |
| ENST00000510818.6:c.14G>A | ENSP00000424267.2:p.Cys5Tyr | |
| ENST00000514553.2:n.12G>A | ||
| ENST00000527216.5:c.3+269G>A | ENSP00000435326.1:n.3+269G>A | |
| ENST00000582677.5:c.14G>A | ENSP00000462870.1:p.Cys5Tyr | |
| ENST00000584946.5:c.14G>A | ENSP00000464663.1:p.Cys5Tyr | |
| NM_004531.4:c.-635G>A | NP_004522.1:n.-635G>A | |
| NM_176806.3:c.14G>A | NP_789776.1:p.Cys5Tyr | |
| NM_004531.5:c.-635G>A MANE Select | NP_004522.1:n.-635G>A | |
| NM_176806.4:c.14G>A MANE Plus Clinical | NP_789776.1:p.Cys5Tyr |