ClinVar RCV:
ClinVar Variation:
dbSNP:
Revel Score:
ENST00000218099 (MANE Select)
0.942
ENST00000394090
0.942
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.139551223G>T , CM000685.2:g.139551223G>T | GRCh38 |
| NC_000023.10:g.138633382G>T , CM000685.1:g.138633382G>T | GRCh37 |
| NC_000023.9:g.138461048G>T | NCBI36 |
| NG_007994.1:g.25488G>T , LRG_556:g.25488G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000218099.7:c.682G>T MANE Select | ENSP00000218099.2:p.Val228Phe | |
| ENST00000643157.1:n.1349G>T | ||
| ENST00000218099.6:c.682G>T | ENSP00000218099.2:p.Val228Phe | |
| ENST00000394090.2:c.568G>T | ENSP00000377650.2:p.Val190Phe | |
| NM_000133.3:c.682G>T , LRG_556t1:c.682G>T | NP_000124.1:p.Val228Phe | |
| NM_001313913.1:c.568G>T | NP_001300842.1:p.Val190Phe | |
| XM_005262397.3:c.553G>T | XP_005262454.1:p.Val185Phe | |
| XM_005262397.4:c.553G>T | XP_005262454.1:p.Val185Phe | |
| NM_000133.4:c.682G>T MANE Select | NP_000124.1:p.Val228Phe | |
| NM_001313913.2:c.568G>T | NP_001300842.1:p.Val190Phe |