Revel Score:
ENST00000277541
0.730
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00000365 (SAS)
Exomes Max Group AF
0.00000385 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.136497146G>A , CM000671.2:g.136497146G>A | GRCh38 |
| NC_000009.11:g.139391598G>A , CM000671.1:g.139391598G>A | GRCh37 |
| NC_000009.10:g.138511419G>A | NCBI36 |
| NG_007458.1:g.53641C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651671.1:c.6593C>T MANE Select | ENSP00000498587.1:p.Ser2198Leu | |
| ENST00000679595.1:c.*1633C>T | ENSP00000506241.1:n.*1633C>T | |
| ENST00000679969.1:n.3189C>T | ||
| ENST00000680003.1:n.2925C>T | ||
| ENST00000680133.1:c.6479C>T | ENSP00000505319.1:p.Ser2160Leu | |
| ENST00000680218.1:c.6473C>T | ENSP00000505339.1:p.Ser2158Leu | |
| ENST00000680668.1:c.6479C>T | ENSP00000506336.1:p.Ser2160Leu | |
| ENST00000680778.1:c.4190C>T | ENSP00000506033.1:p.Ser1397Leu | |
| ENST00000680924.1:c.*3993C>T | ENSP00000506031.1:n.*3993C>T | |
| ENST00000681135.1:c.*4202C>T | ENSP00000506636.1:n.*4202C>T | |
| ENST00000681298.1:n.4698C>T | ||
| ENST00000681454.1:c.*5829C>T | ENSP00000505763.1:n.*5829C>T | |
| ENST00000277541.6:c.6593C>T | ENSP00000277541.6:p.Ser2198Leu | |
| NM_017617.3:c.6593C>T | NP_060087.3:p.Ser2198Leu | |
| XM_011518717.1:c.5894C>T | XP_011517019.1:p.Ser1965Leu | |
| NM_017617.5:c.6593C>T MANE Select | NP_060087.3:p.Ser2198Leu | |
| XM_011518717.2:c.5870C>T | XP_011517019.2:p.Ser1957Leu |