Linked Data
ClinVar Variation Id:
2013353
ClinVar RCV Id:
RCV002834611
dbSNP Id:
rs771457741
gnomAD v2:
15-65342406-G-A
gnomAD v3:
15-65050068-G-A
gnomAD v4:
15-65050068-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.65050068G>A , CM000677.2:g.65050068G>A | GRCh38 |
| NC_000015.9:g.65342406G>A , CM000677.1:g.65342406G>A | GRCh37 |
| NC_000015.8:g.63129459G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000334287.3:c.64G>A (SLC51B) MANE Select | ENSP00000335292.2:p.Glu22Lys | |
| ENST00000334287.2:c.64G>A (SLC51B) | ENSP00000335292.2:p.Glu22Lys | |
| NM_178859.3:c.64G>A (SLC51B) | NP_849190.2:p.Glu22Lys | |
| XM_005254159.3:c.64G>A (SLC51B) | XP_005254216.1:p.Glu22Lys | |
| XM_005254434.3:c.426-4324C>T (RASL12) | XP_005254491.1:n.426-4324C>T | |
| XM_005254159.5:c.64G>A (SLC51B) | XP_005254216.1:p.Glu22Lys | |
| XM_005254434.4:c.426-4324C>T (RASL12) | XP_005254491.1:n.426-4324C>T | |
| NM_178859.4:c.64G>A (SLC51B) MANE Select | NP_849190.2:p.Glu22Lys |