Revel Score:
ENST00000265465 (MANE Select)
0.085
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.65297219G>T , CM000673.2:g.65297219G>T | GRCh38 |
| NC_000011.9:g.65064690G>T , CM000673.1:g.65064690G>T | GRCh37 |
| NC_000011.8:g.64821266G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000525924.2:c.1647+1229G>T | ENSP00000434173.2:n.1647+1229G>T | |
| ENST00000527618.6:n.3473G>T | ||
| ENST00000706534.1:c.*1602G>T | ENSP00000516436.1:n.*1602G>T | |
| ENST00000706535.1:c.*1508G>T | ENSP00000516437.1:n.*1508G>T | |
| ENST00000706537.1:c.*101G>T | ENSP00000516439.1:n.*101G>T | |
| ENST00000706538.1:c.*114G>T | ENSP00000516440.1:n.*114G>T | |
| ENST00000706540.1:c.*979+1229G>T | ENSP00000516441.1:n.*979+1229G>T | |
| ENST00000706541.1:n.2936G>T | ||
| ENST00000265465.8:c.1747G>T MANE Select | ENSP00000265465.3:p.Gly583Trp | |
| ENST00000649896.1:c.1647+1229G>T | ENSP00000498025.1:n.1647+1229G>T | |
| ENST00000265465.7:c.1747G>T | ENSP00000265465.3:p.Gly583Trp | |
| ENST00000525924.1:c.656+1229G>T | ||
| ENST00000527618.5:n.1527G>T | ||
| ENST00000534785.1:n.408G>T | ||
| NM_002689.3:c.1747G>T | NP_002680.2:p.Gly583Trp | |
| XM_011544877.1:c.1647+1229G>T | XP_011543179.1:n.1647+1229G>T | |
| XM_011544878.1:c.1647+1229G>T | XP_011543180.1:n.1647+1229G>T | |
| XM_011544879.1:c.*114G>T | XP_011543181.1:n.*114G>T | |
| XM_011544880.1:c.*14+1229G>T | XP_011543182.1:n.*14+1229G>T | |
| XM_011544881.1:c.*15-453G>T | XP_011543183.1:n.*15-453G>T | |
| XM_011544877.3:c.1647+1229G>T | XP_011543179.1:n.1647+1229G>T | |
| XM_011544878.3:c.1647+1229G>T | XP_011543180.1:n.1647+1229G>T | |
| XM_011544879.2:c.*114G>T | XP_011543181.1:n.*114G>T | |
| XM_011544881.3:c.*15-453G>T | XP_011543183.1:n.*15-453G>T | |
| XM_017017452.2:c.1648-453G>T | XP_016872941.1:n.1648-453G>T | |
| NM_002689.4:c.1747G>T MANE Select | NP_002680.2:p.Gly583Trp |