Revel Score:
ENST00000344721
0.126
ENST00000355292
0.126
ENST00000358102 (MANE Select)
0.126
ENST00000512865
0.126
ENST00000544252
0.126
ENST00000342437
0.126
ENST00000511528
0.126
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.148436323C>A , CM000666.2:g.148436323C>A | GRCh38 |
| NC_000004.11:g.149357475C>A , CM000666.1:g.149357475C>A | GRCh37 |
| NC_000004.10:g.149576925C>A | NCBI36 |
| NG_013350.1:g.11198G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000358102.8:c.538G>T MANE Select | ENSP00000350815.3:p.Val180Phe | |
| ENST00000342437.8:c.538G>T | ENSP00000343907.4:p.Val180Phe | |
| ENST00000344721.8:c.538G>T | ENSP00000341390.4:p.Val180Phe | |
| ENST00000358102.7:c.538G>T | ENSP00000350815.3:p.Val180Phe | |
| ENST00000511528.1:c.538G>T | ENSP00000421481.1:p.Val180Phe | |
| ENST00000512865.5:c.538G>T | ENSP00000423510.1:p.Val180Phe | |
| ENST00000625323.2:c.538G>T | ENSP00000486719.1:p.Val180Phe | |
| NM_000901.4:c.538G>T | NP_000892.2:p.Val180Phe | |
| NM_001166104.1:c.538G>T | NP_001159576.1:p.Val180Phe | |
| XM_011531975.1:c.538G>T | XP_011530277.1:p.Val180Phe | |
| XM_011531976.1:c.538G>T | XP_011530278.1:p.Val180Phe | |
| XM_011531977.1:c.538G>T | XP_011530279.1:p.Val180Phe | |
| XM_011531978.1:c.538G>T | XP_011530280.1:p.Val180Phe | |
| NM_001354819.1:c.538G>T | NP_001341748.1:p.Val180Phe | |
| NR_148974.1:n.901G>T | ||
| XM_011531978.2:c.538G>T | XP_011530280.1:p.Val180Phe | |
| NM_000901.5:c.538G>T MANE Select | NP_000892.2:p.Val180Phe | |
| NM_001166104.2:c.538G>T | NP_001159576.1:p.Val180Phe | |
| NR_148974.2:n.795G>T |