Revel Score:
ENST00000383739
0.060
ENST00000360832
0.244
ENST00000265565 (MANE Select)
0.244
ENST00000441517
0.244
ENST00000545718
0.244
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.47418189C>A , CM000665.2:g.47418189C>A | GRCh38 |
| NC_000003.11:g.47459679C>A , CM000665.1:g.47459679C>A | GRCh37 |
| NC_000003.10:g.47434683C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265565.10:c.2392G>T MANE Select | ENSP00000265565.5:p.Val798Phe | |
| ENST00000648151.1:c.2392G>T | ENSP00000497087.1:p.Val798Phe | |
| ENST00000265565.9:c.2392G>T | ENSP00000265565.5:p.Val798Phe | |
| ENST00000320017.10:c.*1109G>T | ENSP00000324296.6:n.*1109G>T | |
| ENST00000428413.5:c.965G>T | ENSP00000401819.2:p.Arg322Leu | |
| ENST00000441517.6:c.*1541G>T | ENSP00000416847.3:n.*1541G>T | |
| ENST00000545718.2:c.1273G>T | ENSP00000438956.2:p.Val425Phe | |
| NM_012235.2:c.2392G>T | NP_036367.2:p.Val798Phe | |
| XM_005264967.1:c.2392G>T | XP_005265024.1:p.Val798Phe | |
| XM_005264968.1:c.1627G>T | XP_005265025.1:p.Val543Phe | |
| XM_005264969.1:c.1627G>T | XP_005265026.1:p.Val543Phe | |
| XM_005264970.3:c.1216G>T | XP_005265027.1:p.Val406Phe | |
| XM_005264971.1:c.1216G>T | XP_005265028.1:p.Val406Phe | |
| XM_005264972.3:c.1216G>T | XP_005265029.1:p.Val406Phe | |
| XM_011533501.1:c.2392G>T | XP_011531803.1:p.Val798Phe | |
| XM_011533502.1:c.1249G>T | XP_011531804.1:p.Val417Phe | |
| XR_940393.1:n.2578G>T | ||
| NM_001320044.1:c.1627G>T | NP_001306973.1:p.Val543Phe | |
| NM_012235.3:c.2392G>T | NP_036367.2:p.Val798Phe | |
| XM_005264967.2:c.2392G>T | XP_005265024.1:p.Val798Phe | |
| XM_011533502.3:c.1249G>T | XP_011531804.1:p.Val417Phe | |
| XM_017005918.1:c.2392G>T | XP_016861407.1:p.Val798Phe | |
| XM_017005921.1:c.1216G>T | XP_016861410.1:p.Val406Phe | |
| NM_012235.4:c.2392G>T MANE Select | NP_036367.2:p.Val798Phe | |
| NM_001320044.2:c.1627G>T | NP_001306973.1:p.Val543Phe |