Linked Data
ClinVar Variation Id:
2772761
ClinVar RCV Id:
RCV003576841
dbSNP Id:
rs1483414364
gnomAD v4:
15-65050075-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.65050075T>C , CM000677.2:g.65050075T>C | GRCh38 |
| NC_000015.9:g.65342413T>C , CM000677.1:g.65342413T>C | GRCh37 |
| NC_000015.8:g.63129466T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000334287.3:c.71T>C (SLC51B) MANE Select | ENSP00000335292.2:p.Met24Thr | |
| ENST00000334287.2:c.71T>C (SLC51B) | ENSP00000335292.2:p.Met24Thr | |
| NM_178859.3:c.71T>C (SLC51B) | NP_849190.2:p.Met24Thr | |
| XM_005254159.3:c.71T>C (SLC51B) | XP_005254216.1:p.Met24Thr | |
| XM_005254434.3:c.426-4331A>G (RASL12) | XP_005254491.1:n.426-4331A>G | |
| XM_005254159.5:c.71T>C (SLC51B) | XP_005254216.1:p.Met24Thr | |
| XM_005254434.4:c.426-4331A>G (RASL12) | XP_005254491.1:n.426-4331A>G | |
| NM_178859.4:c.71T>C (SLC51B) MANE Select | NP_849190.2:p.Met24Thr |