Linked Data
ClinVar Variation Id:
180907
dbSNP Id:
rs730880512
ExAC:
19:4097290 T / C
gnomAD v2:
19-4097290-T-C
gnomAD v4:
19-4097292-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.4097292T>C , CM000681.2:g.4097292T>C | GRCh38 |
| NC_000019.9:g.4097290T>C , CM000681.1:g.4097290T>C | GRCh37 |
| NC_000019.8:g.4048290T>C | NCBI36 |
| NG_007996.1:g.31837A>G , LRG_750:g.31837A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000394867.9:n.1410A>G | ||
| ENST00000687128.1:n.2221A>G | ||
| ENST00000688002.1:n.3122A>G | ||
| ENST00000689792.1:n.875A>G | ||
| ENST00000262948.10:c.971A>G MANE Select | ENSP00000262948.4:p.Tyr324Cys | |
| ENST00000262948.9:c.971A>G | ENSP00000262948.3:p.Tyr324Cys | |
| ENST00000394867.8:c.680A>G | ENSP00000378336.1:p.Tyr227Cys | |
| ENST00000595715.1:n.786A>G | ||
| ENST00000597263.5:n.170-1843A>G | ||
| ENST00000599021.1:c.81A>G | ||
| ENST00000600584.5:n.1531A>G | ||
| ENST00000601786.5:n.1272A>G | ||
| NM_030662.3:c.971A>G , LRG_750t1:c.971A>G | NP_109587.1:p.Tyr324Cys | |
| XM_006722799.2:c.706-1843A>G | XP_006722862.1:n.706-1843A>G | |
| XM_011528133.1:c.401A>G | XP_011526435.1:p.Tyr134Cys | |
| XM_017026989.1:c.971A>G | XP_016882478.1:p.Tyr324Cys | |
| XM_017026990.1:c.706-1843A>G | XP_016882479.1:n.706-1843A>G | |
| NM_030662.4:c.971A>G MANE Select | NP_109587.1:p.Tyr324Cys |