Revel Score:
ENST00000298552 (MANE Select)
0.225
ENST00000440111
0.225
ENST00000545250
0.225
gnomAD v4:
Joint Max Group AF
0.00000183 (NFE)
Exomes Max Group AF
0.00000194 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.132896744A>C , CM000671.2:g.132896744A>C | GRCh38 |
| NC_000009.11:g.135772131A>C , CM000671.1:g.135772131A>C | GRCh37 |
| NC_000009.10:g.134761952A>C | NCBI36 |
| NG_012386.1:g.52890T>G , LRG_486:g.52890T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000475903.7:c.2983T>G | ENSP00000496126.2:p.Cys995Gly | |
| ENST00000490179.4:c.2986T>G | ENSP00000495533.2:p.Cys996Gly | |
| ENST00000642261.2:c.*842T>G | ENSP00000494743.2:n.*842T>G | |
| ENST00000643275.2:c.*926T>G | ENSP00000495598.2:n.*926T>G | |
| ENST00000643362.2:c.2599T>G | ENSP00000496398.2:p.Cys867Gly | |
| ENST00000643625.2:c.*728T>G | ENSP00000495546.2:n.*728T>G | |
| ENST00000643691.2:c.2623T>G | ENSP00000494916.2:p.Cys875Gly | |
| ENST00000644184.2:c.2944T>G | ENSP00000495428.2:p.Cys982Gly | |
| ENST00000645129.2:c.2830T>G | ENSP00000493639.2:p.Cys944Gly | |
| ENST00000646440.2:c.2986T>G | ENSP00000495830.2:p.Cys996Gly | |
| ENST00000298552.9:c.2986T>G MANE Select | ENSP00000298552.3:p.Cys996Gly | |
| ENST00000642261.1:c.1123T>G | ||
| ENST00000642617.1:c.2983T>G | ENSP00000493773.1:p.Cys995Gly | |
| ENST00000642627.1:c.2968T>G | ENSP00000496772.1:p.Cys990Gly | |
| ENST00000642811.1:c.*2756T>G | ENSP00000495554.1:n.*2756T>G | |
| ENST00000643072.1:c.2833T>G | ENSP00000496691.1:p.Cys945Gly | |
| ENST00000643275.1:c.1460T>G | ENSP00000495598.1:n.1460T>G | |
| ENST00000643583.1:c.2971T>G | ENSP00000494685.1:p.Cys991Gly | |
| ENST00000643625.1:c.863T>G | ENSP00000495546.1:n.863T>G | |
| ENST00000643875.1:c.2986T>G | ENSP00000495158.1:p.Cys996Gly | |
| ENST00000644097.1:c.2983T>G | ENSP00000494682.1:p.Cys995Gly | |
| ENST00000644184.1:c.1681T>G | ENSP00000495428.1:p.Cys561Gly | |
| ENST00000644255.1:c.*2753T>G | ENSP00000493608.1:n.*2753T>G | |
| ENST00000644319.1:n.3361T>G | ||
| ENST00000644786.1:n.645T>G | ||
| ENST00000644882.1:n.1894T>G | ||
| ENST00000645901.1:n.3837T>G | ||
| ENST00000646391.1:c.*2756T>G | ENSP00000494104.1:n.*2756T>G | |
| ENST00000646625.1:c.2986T>G | ENSP00000496263.1:p.Cys996Gly | |
| ENST00000647262.1:n.1951T>G | ||
| ENST00000647279.1:c.*2225T>G | ENSP00000494502.1:n.*2225T>G | |
| ENST00000647534.1:n.2050T>G | ||
| ENST00000298552.7:c.2986T>G | ENSP00000298552.3:p.Cys996Gly | |
| ENST00000440111.6:c.2986T>G | ENSP00000394524.2:p.Cys996Gly | |
| ENST00000545250.5:c.2833T>G | ENSP00000444017.1:p.Cys945Gly | |
| NM_000368.4:c.2986T>G , LRG_486t1:c.2986T>G | NP_000359.1:p.Cys996Gly | |
| NM_001162426.1:c.2983T>G | NP_001155898.1:p.Cys995Gly | |
| NM_001162427.1:c.2833T>G | NP_001155899.1:p.Cys945Gly | |
| XM_005272211.1:c.2986T>G | XP_005272268.1:p.Cys996Gly | |
| XM_006717271.1:c.2986T>G | XP_006717334.1:p.Cys996Gly | |
| XM_011518979.1:c.2986T>G | XP_011517281.1:p.Cys996Gly | |
| NM_001362177.1:c.2623T>G | NP_001349106.1:p.Cys875Gly | |
| XM_011518979.2:c.2986T>G | XP_011517281.1:p.Cys996Gly | |
| XM_017015096.1:c.2986T>G | XP_016870585.1:p.Cys996Gly | |
| XM_017015097.1:c.2986T>G | XP_016870586.1:p.Cys996Gly | |
| XM_017015098.1:c.2983T>G | XP_016870587.1:p.Cys995Gly | |
| XM_017015100.1:c.2623T>G | XP_016870589.1:p.Cys875Gly | |
| XM_017015101.1:c.2620T>G | XP_016870590.1:p.Cys874Gly | |
| NM_000368.5:c.2986T>G MANE Select | NP_000359.1:p.Cys996Gly | |
| NM_001162426.2:c.2983T>G | NP_001155898.1:p.Cys995Gly | |
| NM_001162427.2:c.2833T>G | NP_001155899.1:p.Cys945Gly | |
| NM_001362177.2:c.2623T>G | NP_001349106.1:p.Cys875Gly |