Revel Score:
ENST00000375499 (MANE Select)
0.956
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17033086A>G , CM000663.2:g.17033086A>G | GRCh38 |
| NC_000001.10:g.17359581A>G , CM000663.1:g.17359581A>G | GRCh37 |
| NC_000001.9:g.17232168A>G | NCBI36 |
| NG_012340.1:g.26085T>C , LRG_316:g.26085T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000463045.3:c.89T>C | ENSP00000481376.2:p.Leu30Ser | |
| ENST00000491274.6:c.218T>C | ENSP00000480482.2:p.Leu73Ser | |
| ENST00000375499.8:c.260T>C MANE Select | ENSP00000364649.3:p.Leu87Ser | |
| ENST00000375499.7:c.260T>C | ENSP00000364649.3:p.Leu87Ser | |
| ENST00000463045.2:c.89T>C | ENSP00000481376.1:p.Leu30Ser | |
| ENST00000466613.2:n.272T>C | ||
| ENST00000475506.1:n.177T>C | ||
| ENST00000485515.5:n.248T>C | ||
| ENST00000491274.5:c.218T>C | ENSP00000480482.1:p.Leu73Ser | |
| NM_003000.2:c.260T>C , LRG_316t1:c.260T>C | NP_002991.2:p.Leu87Ser | |
| NM_003000.3:c.260T>C MANE Select | NP_002991.2:p.Leu87Ser |