Linked Data
ClinVar Variation Id:
414288
dbSNP Id:
rs74936036
ExAC:
2:26637228 T / C
gnomAD v2:
2-26637228-T-C
gnomAD v3:
2-26414360-T-C
gnomAD v4:
2-26414360-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.26414360T>C , CM000664.2:g.26414360T>C | GRCh38 |
| NC_000002.11:g.26637228T>C , CM000664.1:g.26637228T>C | GRCh37 |
| NC_000002.10:g.26490732T>C | NCBI36 |
| NG_042824.1:g.17449T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000288710.7:c.172T>C MANE Select | ENSP00000288710.2:p.Tyr58His | |
| ENST00000649059.1:c.158T>C | ||
| ENST00000288710.6:c.172T>C | ENSP00000288710.2:p.Tyr58His | |
| ENST00000421869.5:c.172T>C | ENSP00000414375.1:p.Tyr58His | |
| NM_145038.3:c.172T>C | NP_659475.2:p.Tyr58His | |
| NM_145038.4:c.172T>C | NP_659475.2:p.Tyr58His | |
| XM_005264637.3:c.-263T>C | XP_005264694.1:n.-263T>C | |
| XM_017005271.1:c.-709T>C | XP_016860760.1:n.-709T>C | |
| XM_024453218.1:c.-525T>C | XP_024308986.1:n.-525T>C | |
| NM_145038.5:c.172T>C MANE Select | NP_659475.2:p.Tyr58His |