Revel Score:
ENST00000262304 (MANE Select)
0.376
ENST00000423118
0.376
ENST00000382481
0.376
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00018097 (MID)
Genomes Max Group AF
0.00001914 (AFR)
Exomes Max Group AF
0.00019351 (MID)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2108868G>A , CM000678.2:g.2108868G>A | GRCh38 |
| NC_000016.9:g.2158869G>A , CM000678.1:g.2158869G>A | GRCh37 |
| NC_000016.8:g.2098870G>A | NCBI36 |
| NG_008617.1:g.32031C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262304.9:c.6299C>T MANE Select | ENSP00000262304.4:p.Ser2100Leu | |
| ENST00000262304.8:c.6299C>T | ENSP00000262304.4:p.Ser2100Leu | |
| ENST00000415938.7:n.311-1920C>T | ||
| ENST00000423118.5:c.6299C>T | ENSP00000399501.1:p.Ser2100Leu | |
| ENST00000483024.1:c.234-1920C>T | ||
| ENST00000483731.5:n.791-1920C>T | ||
| ENST00000487932.5:c.986C>T | ENSP00000457132.1:p.Ser329Leu | |
| ENST00000488185.2:c.473-510C>T | ||
| ENST00000565639.6:n.774-1920C>T | ||
| ENST00000568591.5:c.2227-1920C>T | ENSP00000457162.1:n.2227-1920C>T | |
| ENST00000569983.5:n.422-1920C>T | ||
| NM_000296.3:c.6299C>T | NP_000287.3:p.Ser2100Leu | |
| NM_001009944.2:c.6299C>T | NP_001009944.2:p.Ser2100Leu | |
| XM_005255370.2:c.3254C>T | XP_005255427.1:p.Ser1085Leu | |
| XM_011522525.1:c.6377C>T | XP_011520827.1:p.Ser2126Leu | |
| XM_011522526.1:c.6377C>T | XP_011520828.1:p.Ser2126Leu | |
| XM_011522527.1:c.6377C>T | XP_011520829.1:p.Ser2126Leu | |
| XM_011522528.1:c.6353C>T | XP_011520830.1:p.Ser2118Leu | |
| XM_011522529.1:c.6353C>T | XP_011520831.1:p.Ser2118Leu | |
| XM_011522530.1:c.6323C>T | XP_011520832.1:p.Ser2108Leu | |
| XM_011522531.1:c.6305C>T | XP_011520833.1:p.Ser2102Leu | |
| XM_011522532.1:c.6251C>T | XP_011520834.1:p.Ser2084Leu | |
| XM_011522533.1:c.6170C>T | XP_011520835.1:p.Ser2057Leu | |
| XM_011522534.1:c.6113C>T | XP_011520836.1:p.Ser2038Leu | |
| XM_011522535.1:c.4199C>T | XP_011520837.1:p.Ser1400Leu | |
| XM_011522536.1:c.6377C>T | XP_011520838.1:p.Ser2126Leu | |
| XM_011522537.1:c.3377C>T | XP_011520839.1:p.Ser1126Leu | |
| XR_932867.1:n.6392C>T | ||
| XR_932868.1:n.6392C>T | ||
| XR_932869.1:n.6392C>T | ||
| XR_932870.1:n.6392C>T | ||
| XM_005255370.3:c.3254C>T | XP_005255427.1:p.Ser1085Leu | |
| XM_011522528.3:c.6353C>T | XP_011520830.1:p.Ser2118Leu | |
| XM_011522529.2:c.6353C>T | XP_011520831.1:p.Ser2118Leu | |
| XM_011522537.2:c.3377C>T | XP_011520839.1:p.Ser1126Leu | |
| XM_024450298.1:c.6419C>T | XP_024306066.1:p.Ser2140Leu | |
| XM_024450299.1:c.6347C>T | XP_024306067.1:p.Ser2116Leu | |
| XM_024450300.1:c.6209C>T | XP_024306068.1:p.Ser2070Leu | |
| XM_024450301.1:c.4295C>T | XP_024306069.1:p.Ser1432Leu | |
| NM_000296.4:c.6299C>T | NP_000287.4:p.Ser2100Leu | |
| NM_001009944.3:c.6299C>T MANE Select | NP_001009944.3:p.Ser2100Leu |