Linked Data
ClinVar Variation Id:
1267759
ClinVar RCV Id:
RCV001678312
dbSNP Id:
rs1060896
ExAC:
15:45554267 C / A
gnomAD v2:
15-45554267-C-A
gnomAD v3:
15-45262069-C-A
gnomAD v4:
15-45262069-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.45262069C>A , CM000677.2:g.45262069C>A | GRCh38 |
| NC_000015.9:g.45554267C>A , CM000677.1:g.45554267C>A | GRCh37 |
| NC_000015.8:g.43341559C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000347644.8:c.225C>A (SLC28A2) MANE Select | ENSP00000315006.4:p.Ser75Arg | |
| ENST00000347644.7:c.225C>A (SLC28A2) | ENSP00000315006.4:p.Ser75Arg | |
| ENST00000560438.5:c.189C>A (SLC28A2) | ENSP00000454074.1:p.Ser63Arg | |
| NM_004212.3:c.225C>A (SLC28A2) | NP_004203.2:p.Ser75Arg | |
| NR_120335.1:n.27-6071G>T (SLC28A2-AS1) | ||
| XM_011522198.1:c.225C>A (SLC28A2) | XP_011520500.1:p.Ser75Arg | |
| XM_011522199.1:c.225C>A (SLC28A2) | XP_011520501.1:p.Ser75Arg | |
| XM_011522200.1:c.225C>A (SLC28A2) | XP_011520502.1:p.Ser75Arg | |
| XM_011522201.1:c.225C>A (SLC28A2) | XP_011520503.1:p.Ser75Arg | |
| XM_011522198.2:c.225C>A (SLC28A2) | XP_011520500.1:p.Ser75Arg | |
| XM_011522200.2:c.225C>A (SLC28A2) | XP_011520502.1:p.Ser75Arg | |
| XM_011522201.2:c.225C>A (SLC28A2) | XP_011520503.1:p.Ser75Arg | |
| NM_004212.4:c.225C>A (SLC28A2) MANE Select | NP_004203.2:p.Ser75Arg |