Revel Score:
ENST00000246635 (MANE Select)
0.745
ENST00000336861
0.745
ENST00000157775
0.745
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41503661G>C , CM000679.2:g.41503661G>C | GRCh38 |
| NC_000017.10:g.39659913G>C , CM000679.1:g.39659913G>C | GRCh37 |
| NC_000017.9:g.36913439G>C | NCBI36 |
| NG_008406.1:g.6953C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000246635.8:c.560C>G MANE Select | ENSP00000246635.3:p.Ala187Gly | |
| ENST00000246635.7:c.560C>G | ENSP00000246635.3:p.Ala187Gly | |
| ENST00000336861.7:c.560C>G | ENSP00000336604.3:p.Ala187Gly | |
| ENST00000464634.2:c.*157C>G | ENSP00000466525.1:n.*157C>G | |
| ENST00000468313.5:n.396C>G | ||
| ENST00000587118.1:n.577C>G | ||
| ENST00000587435.1:c.400-318C>G | ENSP00000467833.1:n.400-318C>G | |
| ENST00000587544.5:c.560C>G | ENSP00000468221.1:p.Ala187Gly | |
| ENST00000590425.1:c.239C>G | ENSP00000466465.1:p.Ala80Gly | |
| NM_002274.3:c.560C>G | NP_002265.2:p.Ala187Gly | |
| NM_153490.2:c.560C>G | NP_705694.2:p.Ala187Gly | |
| NM_153490.3:c.560C>G MANE Select | NP_705694.3:p.Ala187Gly | |
| NM_002274.4:c.560C>G | NP_002265.3:p.Ala187Gly |