Linked Data
ClinVar Variation Id:
285540
dbSNP Id:
rs45567240
ExAC:
22:18562734 T / C
gnomAD v2:
22-18562734-T-C
gnomAD v3:
22-18079968-T-C
gnomAD v4:
22-18079968-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.18079968T>C , CM000684.2:g.18079968T>C | GRCh38 |
| NC_000022.10:g.18562734T>C , CM000684.1:g.18562734T>C | GRCh37 |
| NC_000022.9:g.16942734T>C | NCBI36 |
| NG_008339.1:g.7049T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000399744.8:c.325T>C MANE Select | ENSP00000382648.4:p.Tyr109His | |
| ENST00000474897.6:c.325T>C | ENSP00000434235.2:p.Tyr109His | |
| ENST00000329627.11:c.325T>C | ENSP00000331106.5:p.Tyr109His | |
| ENST00000399744.7:c.325T>C | ENSP00000382648.3:p.Tyr109His | |
| ENST00000428061.2:c.325T>C | ENSP00000412441.2:p.Tyr109His | |
| ENST00000474897.5:c.325T>C | ENSP00000434235.1:p.Tyr109His | |
| ENST00000610387.4:c.325T>C | ENSP00000482091.1:p.Tyr109His | |
| NM_001127649.2:c.325T>C | NP_001121121.1:p.Tyr109His | |
| NM_001199319.1:c.325T>C | NP_001186248.1:p.Tyr109His | |
| NM_017929.5:c.325T>C | NP_060399.1:p.Tyr109His | |
| NM_001127649.3:c.325T>C MANE Select | NP_001121121.1:p.Tyr109His | |
| NM_001199319.2:c.325T>C | NP_001186248.1:p.Tyr109His | |
| NM_017929.6:c.325T>C | NP_060399.1:p.Tyr109His |