Revel Score:
ENST00000426174
0.112
ENST00000303372 (MANE Select)
0.112
gnomAD v2:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.123706833T>C , CM000674.2:g.123706833T>C | GRCh38 |
| NC_000012.11:g.124191380T>C , CM000674.1:g.124191380T>C | GRCh37 |
| NC_000012.10:g.122757333T>C | NCBI36 |
| NG_030442.1:g.40721T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000303372.7:c.1877T>C MANE Select | ENSP00000304941.5:p.Leu626Ser | |
| ENST00000679504.1:c.1874T>C | ENSP00000505006.1:p.Leu625Ser | |
| ENST00000680394.1:n.978T>C | ||
| ENST00000680500.1:c.*249T>C | ENSP00000506438.1:n.*249T>C | |
| ENST00000680574.1:c.1742T>C | ENSP00000505356.1:p.Leu581Ser | |
| ENST00000303372.6:c.1877T>C | ENSP00000304941.5:p.Leu626Ser | |
| ENST00000426174.6:c.1874T>C | ENSP00000395171.2:p.Leu625Ser | |
| ENST00000543998.1:n.2649T>C | ||
| NM_001143850.2:c.1874T>C | NP_001137322.1:p.Leu625Ser | |
| NM_024809.4:c.1877T>C | NP_079085.2:p.Leu626Ser | |
| XM_005253623.2:c.1742T>C | XP_005253680.1:p.Leu581Ser | |
| XM_006719605.2:c.1877T>C | XP_006719668.1:p.Leu626Ser | |
| XM_011538748.1:c.965T>C | XP_011537050.1:p.Leu322Ser | |
| XM_006719605.3:c.1877T>C | XP_006719668.1:p.Leu626Ser | |
| XM_017019974.1:c.1739T>C | XP_016875463.1:p.Leu580Ser | |
| XM_017019975.1:c.965T>C | XP_016875464.1:p.Leu322Ser | |
| NM_024809.5:c.1877T>C MANE Select | NP_079085.2:p.Leu626Ser | |
| NM_001143850.3:c.1874T>C | NP_001137322.1:p.Leu625Ser |