Revel Score:
ENST00000442528
0.751
ENST00000456334
0.751
ENST00000314134 (MANE Select)
0.751
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.45811163C>G , CM000673.2:g.45811163C>G | GRCh38 |
| NC_000011.9:g.45832714C>G , CM000673.1:g.45832714C>G | GRCh37 |
| NC_000011.8:g.45789290C>G | NCBI36 |
| NG_009875.1:g.12092C>G , LRG_107:g.12092C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000526817.2:c.884C>G | ENSP00000432145.2:p.Thr295Arg | |
| ENST00000314134.4:c.923C>G MANE Select | ENSP00000313318.3:p.Thr308Arg | |
| ENST00000314134.3:c.923C>G | ENSP00000313318.3:p.Thr308Arg | |
| ENST00000442528.2:c.884C>G | ENSP00000412408.2:p.Thr295Arg | |
| NM_001145265.1:c.884C>G | NP_001138737.1:p.Thr295Arg | |
| NM_001145266.1:c.884C>G | NP_001138738.1:p.Thr295Arg | |
| NM_018389.4:c.923C>G , LRG_107t1:c.923C>G | NP_060859.4:p.Thr308Arg | |
| XM_011520202.1:c.416C>G | XP_011518504.1:p.Thr139Arg | |
| XM_011520202.2:c.416C>G | XP_011518504.1:p.Thr139Arg | |
| NM_001145265.2:c.884C>G | NP_001138737.1:p.Thr295Arg | |
| NM_018389.5:c.923C>G MANE Select | NP_060859.4:p.Thr308Arg |