Revel Score:
ENST00000360256 (MANE Select)
0.739
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154903989A>G , CM000685.2:g.154903989A>G | GRCh38 |
| NC_000023.10:g.154132264A>G , CM000685.1:g.154132264A>G | GRCh37 |
| NC_000023.9:g.153785458A>G | NCBI36 |
| NG_011403.1:g.123735T>C | |
| NG_011403.2:g.123735T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360256.9:c.5915T>C MANE Select | ENSP00000353393.4:p.Ile1972Thr | |
| ENST00000360256.8:c.5915T>C | ENSP00000353393.4:p.Ile1972Thr | |
| NM_000132.3:c.5915T>C | NP_000123.1:p.Ile1972Thr | |
| XM_011531126.1:c.5810T>C | XP_011529428.1:p.Ile1937Thr | |
| NM_000132.4:c.5915T>C MANE Select | NP_000123.1:p.Ile1972Thr |