Revel Score:
ENST00000487664
0.343
ENST00000298480
0.343
ENST00000371757 (MANE Select)
0.343
ENST00000486577
0.343
ENST00000491806
0.343
ENST00000488444
0.343
ENST00000490355
0.343
ENST00000263604
0.343
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00018303 (NFE)
Genomes Max Group AF
0.00002593 (NFE)
Exomes Max Group AF
0.00019286 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.135784535T>G , CM000671.2:g.135784535T>G | GRCh38 |
| NC_000009.11:g.138676381T>G , CM000671.1:g.138676381T>G | GRCh37 |
| NC_000009.10:g.137816202T>G | NCBI36 |
| NG_033070.1:g.87351T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371757.7:c.2944T>G MANE Select | ENSP00000360822.2:p.Ser982Ala | |
| ENST00000674572.1:c.2785T>G | ENSP00000501742.1:p.Ser929Ala | |
| ENST00000675090.1:c.2692T>G | ENSP00000501833.1:p.Ser898Ala | |
| ENST00000675399.1:c.2692T>G | ENSP00000501932.1:p.Ser898Ala | |
| ENST00000676421.1:c.2701T>G | ENSP00000502322.1:p.Ser901Ala | |
| ENST00000263604.5:c.2845T>G | ENSP00000263604.4:p.Ser949Ala | |
| ENST00000371757.6:c.2944T>G | ENSP00000360822.2:p.Ser982Ala | |
| ENST00000460750.5:c.*2554T>G | ENSP00000418777.1:n.*2554T>G | |
| ENST00000486577.6:c.2827T>G | ENSP00000417578.3:p.Ser943Ala | |
| ENST00000487664.5:c.2944T>G | ENSP00000417851.2:p.Ser982Ala | |
| ENST00000488444.6:c.2887T>G | ENSP00000419007.3:p.Ser963Ala | |
| ENST00000490355.6:c.2881T>G | ENSP00000418003.3:p.Ser961Ala | |
| ENST00000490363.3:n.2763T>G | ||
| ENST00000491806.6:c.2887T>G | ENSP00000419086.3:p.Ser963Ala | |
| ENST00000628528.2:c.2809T>G | ENSP00000486374.1:p.Ser937Ala | |
| ENST00000630792.2:c.2779T>G | ENSP00000486486.1:p.Ser927Ala | |
| ENST00000631073.2:c.2887T>G | ENSP00000486130.1:p.Ser963Ala | |
| ENST00000631193.1:c.810T>G | ENSP00000486830.1:n.810T>G | |
| NM_001272003.1:c.2809T>G | NP_001258932.1:p.Ser937Ala | |
| NM_020822.2:c.2944T>G | NP_065873.2:p.Ser982Ala | |
| XM_011518877.1:c.3079T>G | XP_011517179.1:p.Ser1027Ala | |
| XM_011518878.1:c.3088T>G | XP_011517180.1:p.Ser1030Ala | |
| XM_011518879.1:c.3079T>G | XP_011517181.1:p.Ser1027Ala | |
| XM_011518880.1:c.2845T>G | XP_011517182.1:p.Ser949Ala | |
| XM_011518881.1:c.2434T>G | XP_011517183.1:p.Ser812Ala | |
| XM_011518877.3:c.3079T>G | XP_011517179.1:p.Ser1027Ala | |
| XM_011518878.3:c.3088T>G | XP_011517180.1:p.Ser1030Ala | |
| XM_011518879.3:c.3079T>G | XP_011517181.1:p.Ser1027Ala | |
| XM_011518881.3:c.2434T>G | XP_011517183.1:p.Ser812Ala | |
| XM_017014931.1:c.2878T>G | XP_016870420.1:p.Ser960Ala | |
| XM_017014932.1:c.2701T>G | XP_016870421.1:p.Ser901Ala | |
| XM_017014933.1:c.2434T>G | XP_016870422.1:p.Ser812Ala | |
| XM_024447617.1:c.2434T>G | XP_024303385.1:p.Ser812Ala | |
| XM_024447618.1:c.2434T>G | XP_024303386.1:p.Ser812Ala | |
| NM_020822.3:c.2944T>G MANE Select | NP_065873.2:p.Ser982Ala | |
| NM_001272003.2:c.2809T>G | NP_001258932.1:p.Ser937Ala |