Revel Score:
ENST00000441599
0.218
ENST00000380450 (MANE Select)
0.218
ENST00000340624
0.091
ENST00000416273
0.091
ENST00000441313
0.091
ENST00000452698
0.091
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7633209G>T , CM000679.2:g.7633209G>T | GRCh38 |
| NC_000017.10:g.7536527G>T , CM000679.1:g.7536527G>T | GRCh37 |
| NC_000017.9:g.7477252G>T | NCBI36 |
| NG_011981.2:g.24146G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000380450.9:c.1066G>T MANE Select | ENSP00000369816.4:p.Asp356Tyr | |
| ENST00000340624.9:c.892G>T | ENSP00000345675.6:p.Asp298Tyr | |
| ENST00000380450.8:c.1066G>T | ENSP00000369816.4:p.Asp356Tyr | |
| ENST00000416273.7:c.858G>T | ENSP00000388867.3:p.Lys286Asn | |
| ENST00000441599.6:c.721G>T | ENSP00000393426.2:p.Asp241Tyr | |
| ENST00000570353.5:c.*428G>T | ENSP00000458199.1:n.*428G>T | |
| ENST00000570527.5:c.*1024G>T | ENSP00000461162.1:n.*1024G>T | |
| ENST00000570547.5:c.547G>T | ENSP00000458875.1:p.Asp183Tyr | |
| ENST00000571153.5:c.615G>T | ENSP00000458858.1:p.Lys205Asn | |
| ENST00000572182.5:c.225G>T | ENSP00000458816.1:p.Lys75Asn | |
| ENST00000572262.5:c.730G>T | ENSP00000459999.1:p.Asp244Tyr | |
| ENST00000574539.5:c.684G>T | ENSP00000458181.1:p.Lys228Asn | |
| ENST00000575314.5:c.892G>T | ENSP00000458559.1:p.Asp298Tyr | |
| ENST00000575618.5:c.318G>T | ENSP00000459826.1:p.Lys106Asn | |
| ENST00000575903.5:c.1012G>T | ENSP00000458973.1:p.Asp338Tyr | |
| ENST00000576152.1:c.478G>T | ENSP00000461743.1:p.Asp160Tyr | |
| ENST00000576478.5:c.385G>T | ENSP00000461133.1:p.Asp129Tyr | |
| ENST00000576728.5:c.522G>T | ENSP00000459620.1:p.Lys174Asn | |
| ENST00000576830.5:c.640G>T | ENSP00000460219.1:p.Asp214Tyr | |
| NM_001040.4:c.1066G>T | NP_001031.2:p.Asp356Tyr | |
| NM_001146279.2:c.1012G>T | NP_001139751.1:p.Asp338Tyr | |
| NM_001146280.2:c.858G>T | NP_001139752.1:p.Lys286Asn | |
| NM_001146281.2:c.721G>T | NP_001139753.1:p.Asp241Tyr | |
| NM_001289113.1:c.892G>T | NP_001276042.1:p.Asp298Tyr | |
| NM_001289114.1:c.892G>T | NP_001276043.1:p.Asp298Tyr | |
| NM_001289115.1:c.684G>T | NP_001276044.1:p.Lys228Asn | |
| NM_001289116.1:c.718G>T | NP_001276045.1:p.Asp240Tyr | |
| NM_001040.5:c.1066G>T MANE Select | NP_001031.2:p.Asp356Tyr | |
| NM_001146279.3:c.1012G>T | NP_001139751.1:p.Asp338Tyr | |
| NM_001146280.3:c.858G>T | NP_001139752.1:p.Lys286Asn | |
| NM_001289116.2:c.718G>T | NP_001276045.1:p.Asp240Tyr | |
| NM_001146281.3:c.721G>T | NP_001139753.1:p.Asp241Tyr | |
| NM_001289113.2:c.892G>T | NP_001276042.1:p.Asp298Tyr | |
| NM_001289114.2:c.892G>T | NP_001276043.1:p.Asp298Tyr | |
| NM_001289115.2:c.684G>T | NP_001276044.1:p.Lys228Asn |