Revel Score:
ENST00000399220 (MANE Select)
0.717
ENST00000538756
0.717
ENST00000358309
0.717
ENST00000541347
0.717
ENST00000542107
0.717
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.39265779C>A , CM000665.2:g.39265779C>A | GRCh38 |
| NC_000003.11:g.39307270C>A , CM000665.1:g.39307270C>A | GRCh37 |
| NC_000003.10:g.39282274C>A | NCBI36 |
| NG_016362.1:g.20957G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000399220.3:c.731G>T MANE Select | ENSP00000382166.3:p.Trp244Leu | |
| ENST00000358309.3:c.827G>T | ENSP00000351059.3:p.Trp276Leu | |
| ENST00000399220.2:c.731G>T | ENSP00000382166.2:p.Trp244Leu | |
| ENST00000541347.5:c.731G>T | ENSP00000439140.1:p.Trp244Leu | |
| ENST00000542107.5:c.731G>T | ENSP00000444928.1:p.Trp244Leu | |
| NM_001171171.1:c.731G>T | NP_001164642.1:p.Trp244Leu | |
| NM_001171172.1:c.731G>T | NP_001164643.1:p.Trp244Leu | |
| NM_001171174.1:c.827G>T | NP_001164645.1:p.Trp276Leu | |
| NM_001337.3:c.731G>T | NP_001328.1:p.Trp244Leu | |
| NM_001337.4:c.731G>T MANE Select | NP_001328.1:p.Trp244Leu | |
| NM_001171171.2:c.731G>T | NP_001164642.1:p.Trp244Leu | |
| NM_001171172.2:c.731G>T | NP_001164643.1:p.Trp244Leu |