Revel Score:
ENST00000334287 (MANE Select)
0.033
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.65050047G>C , CM000677.2:g.65050047G>C | GRCh38 |
| NC_000015.9:g.65342385G>C , CM000677.1:g.65342385G>C | GRCh37 |
| NC_000015.8:g.63129438G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000334287.3:c.43G>C (SLC51B) MANE Select | ENSP00000335292.2:p.Val15Leu | |
| ENST00000334287.2:c.43G>C (SLC51B) | ENSP00000335292.2:p.Val15Leu | |
| NM_178859.3:c.43G>C (SLC51B) | NP_849190.2:p.Val15Leu | |
| XM_005254159.3:c.43G>C (SLC51B) | XP_005254216.1:p.Val15Leu | |
| XM_005254434.3:c.426-4303C>G (RASL12) | XP_005254491.1:n.426-4303C>G | |
| XM_005254159.5:c.43G>C (SLC51B) | XP_005254216.1:p.Val15Leu | |
| XM_005254434.4:c.426-4303C>G (RASL12) | XP_005254491.1:n.426-4303C>G | |
| NM_178859.4:c.43G>C (SLC51B) MANE Select | NP_849190.2:p.Val15Leu |