Revel Score:
ENST00000263816
0.884
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.169154484A>C , CM000664.2:g.169154484A>C | GRCh38 |
| NC_000002.11:g.170010994A>C , CM000664.1:g.170010994A>C | GRCh37 |
| NC_000002.10:g.169719240A>C | NCBI36 |
| NG_012634.1:g.213129T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000649046.1:c.12271T>G MANE Select | ENSP00000496870.1:p.Trp4091Gly | |
| ENST00000649153.1:c.3171T>G | ||
| ENST00000650252.1:c.1299T>G | ENSP00000496887.1:p.Ile433Met | |
| ENST00000263816.7:c.12271T>G | ENSP00000263816.3:p.Trp4091Gly | |
| NM_004525.2:c.12271T>G | NP_004516.2:p.Trp4091Gly | |
| XM_011511183.1:c.12142T>G | XP_011509485.1:p.Trp4048Gly | |
| XM_011511184.1:c.9982T>G | XP_011509486.1:p.Trp3328Gly | |
| NM_004525.3:c.12271T>G MANE Select | NP_004516.2:p.Trp4091Gly | |
| XM_011511183.3:c.12142T>G | XP_011509485.1:p.Trp4048Gly | |
| XM_011511184.2:c.9982T>G | XP_011509486.1:p.Trp3328Gly |