Revel Score:
ENST00000399220 (MANE Select)
0.867
ENST00000538756
0.867
ENST00000358309
0.867
ENST00000541347
0.867
ENST00000542107
0.867
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.39265771A>C , CM000665.2:g.39265771A>C | GRCh38 |
| NC_000003.11:g.39307262A>C , CM000665.1:g.39307262A>C | GRCh37 |
| NC_000003.10:g.39282266A>C | NCBI36 |
| NG_016362.1:g.20965T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000399220.3:c.739T>G MANE Select | ENSP00000382166.3:p.Tyr247Asp | |
| ENST00000358309.3:c.835T>G | ENSP00000351059.3:p.Tyr279Asp | |
| ENST00000399220.2:c.739T>G | ENSP00000382166.2:p.Tyr247Asp | |
| ENST00000541347.5:c.739T>G | ENSP00000439140.1:p.Tyr247Asp | |
| ENST00000542107.5:c.739T>G | ENSP00000444928.1:p.Tyr247Asp | |
| NM_001171171.1:c.739T>G | NP_001164642.1:p.Tyr247Asp | |
| NM_001171172.1:c.739T>G | NP_001164643.1:p.Tyr247Asp | |
| NM_001171174.1:c.835T>G | NP_001164645.1:p.Tyr279Asp | |
| NM_001337.3:c.739T>G | NP_001328.1:p.Tyr247Asp | |
| NM_001337.4:c.739T>G MANE Select | NP_001328.1:p.Tyr247Asp | |
| NM_001171171.2:c.739T>G | NP_001164642.1:p.Tyr247Asp | |
| NM_001171172.2:c.739T>G | NP_001164643.1:p.Tyr247Asp |