Linked Data
ClinVar Variation Id:
1978177
ClinVar RCV Id:
RCV002741702
dbSNP Id:
rs751403585
ExAC:
15:65345373 C / G
gnomAD v2:
15-65345373-C-G
gnomAD v4:
15-65053035-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.65053035C>G , CM000677.2:g.65053035C>G | GRCh38 |
| NC_000015.9:g.65345373C>G , CM000677.1:g.65345373C>G | GRCh37 |
| NC_000015.8:g.63132426C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000334287.3:c.258C>G (SLC51B) MANE Select | ENSP00000335292.2:p.His86Gln | |
| ENST00000334287.2:c.258C>G (SLC51B) | ENSP00000335292.2:p.His86Gln | |
| NM_178859.3:c.258C>G (SLC51B) | NP_849190.2:p.His86Gln | |
| XM_005254159.3:c.258C>G (SLC51B) | XP_005254216.1:p.His86Gln | |
| XM_005254434.3:c.425+5392G>C (RASL12) | XP_005254491.1:n.425+5392G>C | |
| XM_011521661.1:c.426-970G>C (RASL12) | XP_011519963.1:n.426-970G>C | |
| XM_005254159.5:c.258C>G (SLC51B) | XP_005254216.1:p.His86Gln | |
| XM_005254434.4:c.425+5392G>C (RASL12) | XP_005254491.1:n.425+5392G>C | |
| XM_017022296.1:c.426-970G>C (RASL12) | XP_016877785.1:n.426-970G>C | |
| NM_178859.4:c.258C>G (SLC51B) MANE Select | NP_849190.2:p.His86Gln |