Revel Score:
ENST00000375499 (MANE Select)
0.813
gnomAD v3:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17028736C>G , CM000663.2:g.17028736C>G | GRCh38 |
| NC_000001.10:g.17355231C>G , CM000663.1:g.17355231C>G | GRCh37 |
| NC_000001.9:g.17227818C>G | NCBI36 |
| NG_012340.1:g.30435G>C , LRG_316:g.30435G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000463045.3:c.116G>C | ENSP00000481376.2:p.Gly39Ala | |
| ENST00000491274.6:c.245G>C | ENSP00000480482.2:p.Gly82Ala | |
| ENST00000375499.8:c.287G>C MANE Select | ENSP00000364649.3:p.Gly96Ala | |
| ENST00000375499.7:c.287G>C | ENSP00000364649.3:p.Gly96Ala | |
| ENST00000463045.2:c.116G>C | ENSP00000481376.1:p.Gly39Ala | |
| ENST00000475506.1:n.204G>C | ||
| ENST00000485515.5:n.275G>C | ||
| ENST00000491274.5:c.245G>C | ENSP00000480482.1:p.Gly82Ala | |
| NM_003000.2:c.287G>C , LRG_316t1:c.287G>C | NP_002991.2:p.Gly96Ala | |
| NM_003000.3:c.287G>C MANE Select | NP_002991.2:p.Gly96Ala |