Linked Data
ClinVar Variation Id:
2419637
ClinVar RCV Id:
RCV003115522
dbSNP Id:
rs776952059
ExAC:
15:65345301 C / A
gnomAD v2:
15-65345301-C-A
gnomAD v3:
15-65052963-C-A
gnomAD v4:
15-65052963-C-A
MyVariant Identifiers:
chr15:g.65345301C>A (hg19)
chr15:g.65345301_65345306delinsAAGAAA (hg19)
chr15:g.65052963C>A (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.65052963C>A , CM000677.2:g.65052963C>A | GRCh38 |
| NC_000015.9:g.65345301C>A , CM000677.1:g.65345301C>A | GRCh37 |
| NC_000015.8:g.63132354C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000334287.3:c.189-3C>A (SLC51B) MANE Select | ENSP00000335292.2:n.189-3C>A | |
| ENST00000334287.2:c.189-3C>A (SLC51B) | ENSP00000335292.2:n.189-3C>A | |
| NM_178859.3:c.189-3C>A (SLC51B) | NP_849190.2:n.189-3C>A | |
| XM_005254159.3:c.189-3C>A (SLC51B) | XP_005254216.1:n.189-3C>A | |
| XM_005254434.3:c.425+5464G>T (RASL12) | XP_005254491.1:n.425+5464G>T | |
| XM_011521661.1:c.426-898G>T (RASL12) | XP_011519963.1:n.426-898G>T | |
| XM_005254159.5:c.189-3C>A (SLC51B) | XP_005254216.1:n.189-3C>A | |
| XM_005254434.4:c.425+5464G>T (RASL12) | XP_005254491.1:n.425+5464G>T | |
| XM_017022296.1:c.426-898G>T (RASL12) | XP_016877785.1:n.426-898G>T | |
| NM_178859.4:c.189-3C>A (SLC51B) MANE Select | NP_849190.2:n.189-3C>A |