Revel Score:
ENST00000329476 (MANE Select)
0.177
ENST00000506608
0.177
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.155214875C>G , CM000666.2:g.155214875C>G | GRCh38 |
| NC_000004.11:g.156136027C>G , CM000666.1:g.156136027C>G | GRCh37 |
| NC_000004.10:g.156355477C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000329476.4:c.936C>G MANE Select | ENSP00000332591.3:p.Ile312Met | |
| ENST00000329476.3:c.936C>G | ENSP00000332591.3:p.Ile312Met | |
| ENST00000506608.1:c.936C>G | ENSP00000426366.1:p.Ile312Met | |
| NM_000910.3:c.936C>G | NP_000901.1:p.Ile312Met | |
| XM_005263033.3:c.936C>G | XP_005263090.1:p.Ile312Met | |
| XM_005263034.3:c.936C>G | XP_005263091.1:p.Ile312Met | |
| XM_005263033.4:c.936C>G | XP_005263090.1:p.Ile312Met | |
| XM_005263034.4:c.936C>G | XP_005263091.1:p.Ile312Met | |
| NM_000910.4:c.936C>G MANE Select | NP_000901.1:p.Ile312Met | |
| NM_001370180.1:c.936C>G | NP_001357109.1:p.Ile312Met | |
| NM_001375470.1:c.936C>G | NP_001362399.1:p.Ile312Met |