Revel Score:
ENST00000316623 (MANE Select)
0.943
ENST00000389087
0.943
ENST00000544030
0.943
gnomAD v3:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48430770A>C , CM000677.2:g.48430770A>C | GRCh38 |
| NC_000015.9:g.48722967A>C , CM000677.1:g.48722967A>C | GRCh37 |
| NC_000015.8:g.46510259A>C | NCBI36 |
| NG_008805.2:g.220019T>G , LRG_778:g.220019T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.6772T>G | ENSP00000453958.2:p.Cys2258Gly | |
| ENST00000674301.2:c.*223T>G | ENSP00000501333.2:n.*223T>G | |
| ENST00000682170.1:n.381T>G | ||
| ENST00000316623.10:c.6772T>G MANE Select | ENSP00000325527.5:p.Cys2258Gly | |
| ENST00000674301.1:c.1876T>G | ENSP00000501333.1:n.1876T>G | |
| ENST00000316623.9:c.6772T>G | ENSP00000325527.5:p.Cys2258Gly | |
| ENST00000537463.6:c.*2535T>G | ENSP00000440294.2:n.*2535T>G | |
| ENST00000559133.5:c.2079T>G | ||
| ENST00000560720.1:n.59T>G | ||
| NM_000138.4:c.6772T>G , LRG_778t1:c.6772T>G | NP_000129.3:p.Cys2258Gly | |
| NM_000138.5:c.6772T>G MANE Select | NP_000129.3:p.Cys2258Gly |