Revel Score:
ENST00000260947 (MANE Select)
0.296
ENST00000449967
0.296
gnomAD v2:
gnomAD v3:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.214780574T>A , CM000664.2:g.214780574T>A | GRCh38 |
| NC_000002.11:g.215645298T>A , CM000664.1:g.215645298T>A | GRCh37 |
| NC_000002.10:g.215353543T>A | NCBI36 |
| NG_012047.2:g.34131A>T | |
| NG_012047.3:g.34138A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260947.9:c.1300A>T MANE Select | ENSP00000260947.4:p.Ile434Phe | |
| ENST00000421162.2:c.215+16487A>T | ENSP00000392245.2:n.215+16487A>T | |
| ENST00000613192.2:c.158+28838A>T | ENSP00000483275.2:n.158+28838A>T | |
| ENST00000613374.5:c.159-28019A>T | ENSP00000484464.1:n.159-28019A>T | |
| ENST00000613706.5:c.906+394A>T | ENSP00000484976.2:n.906+394A>T | |
| ENST00000617164.5:c.1243A>T | ENSP00000480470.1:p.Ile415Phe | |
| ENST00000619009.5:c.364+11723A>T | ENSP00000482293.1:n.364+11723A>T | |
| ENST00000650978.1:c.1142A>T | ||
| ENST00000260947.8:c.1300A>T | ENSP00000260947.4:p.Ile434Phe | |
| ENST00000421162.1:c.215+16487A>T | ENSP00000392245.1:n.215+16487A>T | |
| ENST00000455743.5:c.*920A>T | ENSP00000412186.1:n.*920A>T | |
| ENST00000613192.1:c.73+28838A>T | ENSP00000483275.1:n.73+28838A>T | |
| ENST00000613374.4:c.159-28019A>T | ENSP00000484464.1:n.159-28019A>T | |
| ENST00000613706.4:c.215+16487A>T | ENSP00000484976.1:n.215+16487A>T | |
| ENST00000617164.4:c.1243A>T | ENSP00000480470.1:p.Ile415Phe | |
| ENST00000619009.4:c.364+11723A>T | ENSP00000482293.1:n.364+11723A>T | |
| ENST00000620057.4:c.365-11262A>T | ENSP00000481988.1:n.365-11262A>T | |
| NM_000465.3:c.1300A>T | NP_000456.2:p.Ile434Phe | |
| NM_001282543.1:c.1243A>T | NP_001269472.1:p.Ile415Phe | |
| NM_001282545.1:c.215+16487A>T | NP_001269474.1:n.215+16487A>T | |
| NM_001282548.1:c.159-28019A>T | NP_001269477.1:n.159-28019A>T | |
| NM_001282549.1:c.364+11723A>T | NP_001269478.1:n.364+11723A>T | |
| NR_104212.1:n.1293A>T | ||
| NR_104215.1:n.1236A>T | ||
| NR_104216.1:n.507-11262A>T | ||
| XM_011511567.1:c.1246A>T | XP_011509869.1:p.Ile416Phe | |
| XM_011511568.1:c.1300A>T | XP_011509870.1:p.Ile434Phe | |
| XM_017004613.1:c.1399A>T | XP_016860102.1:p.Ile467Phe | |
| XM_017004614.1:c.1399A>T | XP_016860103.1:p.Ile467Phe | |
| XR_002959322.1:n.1490A>T | ||
| NM_000465.4:c.1300A>T MANE Select | NP_000456.2:p.Ile434Phe | |
| NM_001282543.2:c.1243A>T | NP_001269472.1:p.Ile415Phe | |
| NM_001282545.2:c.215+16487A>T | NP_001269474.1:n.215+16487A>T | |
| NM_001282548.2:c.159-28019A>T | NP_001269477.1:n.159-28019A>T | |
| NM_001282549.2:c.364+11723A>T | NP_001269478.1:n.364+11723A>T | |
| NR_104212.2:n.1265A>T | ||
| NR_104215.2:n.1208A>T | ||
| NR_104216.2:n.479-11262A>T |