Revel Score:
ENST00000488757
0.756
ENST00000376881
0.756
ENST00000376883 (MANE Select)
0.756
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.29673282G>A , CM000668.2:g.29673282G>A | GRCh38 |
| NC_000006.11:g.29641059G>A , CM000668.1:g.29641059G>A | GRCh37 |
| NC_000006.10:g.29749038G>A | NCBI36 |
| NG_013045.1:g.8873C>T | |
| NG_031873.1:g.21302G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376883.2:c.829C>T MANE Select | ENSP00000366080.2:p.His277Tyr | |
| ENST00000488757.6:c.613C>T | ENSP00000418259.2:p.His205Tyr | |
| ENST00000376881.4:c.577C>T | ENSP00000366078.4:p.His193Tyr | |
| ENST00000376883.1:c.769C>T | ENSP00000366080.1:p.His257Tyr | |
| ENST00000488757.5:c.829C>T | ENSP00000418259.1:p.His277Tyr | |
| NM_001109809.2:c.829C>T | NP_001103279.2:p.His277Tyr | |
| XM_006715087.2:c.613C>T | XP_006715150.1:p.His205Tyr | |
| XM_011514570.1:c.829C>T | XP_011512872.1:p.His277Tyr | |
| NM_001109809.3:c.829C>T | NP_001103279.2:p.His277Tyr | |
| NM_001366333.1:c.613C>T | NP_001353262.1:p.His205Tyr | |
| NM_001109809.4:c.829C>T | NP_001103279.2:p.His277Tyr | |
| NM_001366333.2:c.613C>T | NP_001353262.1:p.His205Tyr | |
| NM_001109809.5:c.829C>T MANE Select | NP_001103279.2:p.His277Tyr |