Revel Score:
ENST00000379328 (MANE Select)
0.960
ENST00000346208
0.960
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.8064004T>G , CM000672.2:g.8064004T>G | GRCh38 |
| NC_000010.10:g.8105967T>G , CM000672.1:g.8105967T>G | GRCh37 |
| NC_000010.9:g.8145973T>G | NCBI36 |
| NG_015859.1:g.14301T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000346208.4:c.787T>G | ENSP00000341619.3:p.Cys263Gly | |
| ENST00000379328.9:c.790T>G MANE Select | ENSP00000368632.3:p.Cys264Gly | |
| ENST00000346208.3:c.787T>G | ENSP00000341619.3:p.Cys263Gly | |
| ENST00000379328.7:c.790T>G | ENSP00000368632.3:p.Cys264Gly | |
| ENST00000461472.1:n.443+5163T>G | ||
| NM_001002295.1:c.790T>G | NP_001002295.1:p.Cys264Gly | |
| NM_002051.2:c.787T>G | NP_002042.1:p.Cys263Gly | |
| XM_005252442.2:c.790T>G | XP_005252499.1:p.Cys264Gly | |
| XM_005252443.3:c.790T>G | XP_005252500.1:p.Cys264Gly | |
| XM_005252443.5:c.790T>G | XP_005252500.1:p.Cys264Gly | |
| NM_001002295.2:c.790T>G MANE Select | NP_001002295.1:p.Cys264Gly | |
| NM_002051.3:c.787T>G | NP_002042.1:p.Cys263Gly |