Linked Data
ClinVar Variation Id:
2162573
ClinVar RCV Id:
RCV003070310
dbSNP Id:
rs780717775
ExAC:
17:73269536 C / T
gnomAD v2:
17-73269536-C-T
gnomAD v3:
17-75273455-C-T
gnomAD v4:
17-75273455-C-T
COSMIC:
COSM1303335
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.75273455C>T , CM000679.2:g.75273455C>T | GRCh38 |
| NC_000017.10:g.73269536C>T , CM000679.1:g.73269536C>T | GRCh37 |
| NC_000017.9:g.70781131C>T | NCBI36 |
| NG_008274.1:g.20995G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000416858.7:c.959G>A (SLC25A19) MANE Select | ENSP00000397818.2:p.Arg320His | |
| ENST00000320362.7:c.959G>A (SLC25A19) | ENSP00000319574.3:p.Arg320His | |
| ENST00000375261.8:c.788G>A (SLC25A19) | ENSP00000364410.4:p.Arg263His | |
| ENST00000402418.7:c.959G>A (SLC25A19) | ENSP00000385312.3:p.Arg320His | |
| ENST00000416858.6:c.959G>A (SLC25A19) | ENSP00000397818.2:p.Arg320His | |
| ENST00000442286.6:c.959G>A (SLC25A19) | ENSP00000402202.2:p.Arg320His | |
| ENST00000580994.5:c.959G>A (SLC25A19) | ENSP00000463795.1:p.Arg320His | |
| ENST00000582822.1:c.152-167G>A (SLC25A19) | ||
| NM_001126121.1:c.959G>A (SLC25A19) | NP_001119593.1:p.Arg320His | |
| NM_001126122.1:c.959G>A (SLC25A19) | NP_001119594.1:p.Arg320His | |
| NM_021734.4:c.959G>A (SLC25A19) | NP_068380.3:p.Arg320His | |
| NR_036520.1:n.2157C>T (MIF4GD-DT) | ||
| XM_005257559.2:c.959G>A (SLC25A19) | XP_005257616.1:p.Arg320His | |
| XM_005257560.1:c.959G>A (SLC25A19) | XP_005257617.1:p.Arg320His | |
| XM_005257561.2:c.959G>A (SLC25A19) | XP_005257618.1:p.Arg320His | |
| XM_005257562.1:c.959G>A (SLC25A19) | XP_005257619.1:p.Arg320His | |
| XM_006722007.1:c.959G>A (SLC25A19) | XP_006722070.1:p.Arg320His | |
| XM_011525098.1:c.644G>A (SLC25A19) | XP_011523400.1:p.Arg215His | |
| XM_005257559.4:c.959G>A (SLC25A19) | XP_005257616.1:p.Arg320His | |
| XM_005257560.2:c.959G>A (SLC25A19) | XP_005257617.1:p.Arg320His | |
| XM_005257561.4:c.959G>A (SLC25A19) | XP_005257618.1:p.Arg320His | |
| XM_005257562.2:c.959G>A (SLC25A19) | XP_005257619.1:p.Arg320His | |
| XM_006722007.2:c.959G>A (SLC25A19) | XP_006722070.1:p.Arg320His | |
| XM_017024926.2:c.959G>A (SLC25A19) | XP_016880415.1:p.Arg320His | |
| XM_017024927.2:c.656G>A (SLC25A19) | XP_016880416.1:p.Arg219His | |
| XM_017024928.2:c.644G>A (SLC25A19) | XP_016880417.1:p.Arg215His | |
| NM_001126121.2:c.959G>A (SLC25A19) MANE Select | NP_001119593.1:p.Arg320His | |
| NM_001126122.2:c.959G>A (SLC25A19) | NP_001119594.1:p.Arg320His | |
| NM_021734.5:c.959G>A (SLC25A19) | NP_068380.3:p.Arg320His |