Linked Data
ClinVar Variation Id:
2110317
ClinVar RCV Id:
RCV003020215
dbSNP Id:
rs371669975
ExAC:
15:65343837 G / C
gnomAD v2:
15-65343837-G-C
gnomAD v3:
15-65051499-G-C
gnomAD v4:
15-65051499-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.65051499G>C , CM000677.2:g.65051499G>C | GRCh38 |
| NC_000015.9:g.65343837G>C , CM000677.1:g.65343837G>C | GRCh37 |
| NC_000015.8:g.63130890G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000334287.3:c.98-16G>C (SLC51B) MANE Select | ENSP00000335292.2:n.98-16G>C | |
| ENST00000334287.2:c.98-16G>C (SLC51B) | ENSP00000335292.2:n.98-16G>C | |
| NM_178859.3:c.98-16G>C (SLC51B) | NP_849190.2:n.98-16G>C | |
| XM_005254159.3:c.98-16G>C (SLC51B) | XP_005254216.1:n.98-16G>C | |
| XM_005254434.3:c.426-5755C>G (RASL12) | XP_005254491.1:n.426-5755C>G | |
| XM_005254159.5:c.98-16G>C (SLC51B) | XP_005254216.1:n.98-16G>C | |
| XM_005254434.4:c.426-5755C>G (RASL12) | XP_005254491.1:n.426-5755C>G | |
| NM_178859.4:c.98-16G>C (SLC51B) MANE Select | NP_849190.2:n.98-16G>C |