Revel Score:
ENST00000488757
0.692
ENST00000376881
0.692
ENST00000376883 (MANE Select)
0.692
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.29673282G>T , CM000668.2:g.29673282G>T | GRCh38 |
| NC_000006.11:g.29641059G>T , CM000668.1:g.29641059G>T | GRCh37 |
| NC_000006.10:g.29749038G>T | NCBI36 |
| NG_013045.1:g.8873C>A | |
| NG_031873.1:g.21302G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376883.2:c.829C>A MANE Select | ENSP00000366080.2:p.His277Asn | |
| ENST00000488757.6:c.613C>A | ENSP00000418259.2:p.His205Asn | |
| ENST00000376881.4:c.577C>A | ENSP00000366078.4:p.His193Asn | |
| ENST00000376883.1:c.769C>A | ENSP00000366080.1:p.His257Asn | |
| ENST00000488757.5:c.829C>A | ENSP00000418259.1:p.His277Asn | |
| NM_001109809.2:c.829C>A | NP_001103279.2:p.His277Asn | |
| XM_006715087.2:c.613C>A | XP_006715150.1:p.His205Asn | |
| XM_011514570.1:c.829C>A | XP_011512872.1:p.His277Asn | |
| NM_001109809.3:c.829C>A | NP_001103279.2:p.His277Asn | |
| NM_001366333.1:c.613C>A | NP_001353262.1:p.His205Asn | |
| NM_001109809.4:c.829C>A | NP_001103279.2:p.His277Asn | |
| NM_001366333.2:c.613C>A | NP_001353262.1:p.His205Asn | |
| NM_001109809.5:c.829C>A MANE Select | NP_001103279.2:p.His277Asn |