Revel Score:
ENST00000234739 (MANE Select)
0.066
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.42332623 (NFE)
Genomes Max Group AF
0.41588295 (NFE)
Exomes Max Group AF
0.42356241 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.147620166C>T , CM000663.2:g.147620166C>T | GRCh38 |
| NC_000001.10:g.147091972C>T , CM000663.1:g.147091972C>T | GRCh37 |
| NC_000001.9:g.145558596C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683836.1:c.2011C>T | ENSP00000506908.1:p.Pro671Ser | |
| ENST00000684121.1:c.1789C>T | ENSP00000507238.1:p.Pro597Ser | |
| ENST00000234739.8:c.2011C>T MANE Select | ENSP00000234739.3:p.Pro671Ser | |
| ENST00000234739.7:c.2011C>T | ENSP00000234739.3:p.Pro671Ser | |
| ENST00000622552.4:c.2011C>T | ENSP00000479694.1:p.Pro671Ser | |
| NM_004326.3:c.2011C>T | NP_004317.2:p.Pro671Ser | |
| XM_005272971.3:c.2011C>T | XP_005273028.1:p.Pro671Ser | |
| XM_005277417.2:c.2011C>T | XP_005277474.1:p.Pro671Ser | |
| XM_005277418.2:c.1789C>T | XP_005277475.1:p.Pro597Ser | |
| XM_006711483.2:c.2011C>T | XP_006711546.1:p.Pro671Ser | |
| XM_005272971.4:c.2011C>T | XP_005273028.1:p.Pro671Ser | |
| XM_005277417.4:c.2011C>T | XP_005277474.1:p.Pro671Ser | |
| XM_005277418.4:c.1789C>T | XP_005277475.1:p.Pro597Ser | |
| XM_017002026.1:c.1789C>T | XP_016857515.1:p.Pro597Ser | |
| NM_004326.4:c.2011C>T MANE Select | NP_004317.2:p.Pro671Ser |