Revel Score:
ENST00000369037 (MANE Select)
0.737
ENST00000453874
0.737
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001962 (NFE)
Genomes Max Group AF
0.00001171 (NFE)
Exomes Max Group AF
0.0000183 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.107154674G>A , CM000668.2:g.107154674G>A | GRCh38 |
| NC_000006.11:g.107475878G>A , CM000668.1:g.107475878G>A | GRCh37 |
| NC_000006.10:g.107582571G>A | NCBI36 |
| NG_013033.1:g.309902C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369037.9:c.1145C>T MANE Select | ENSP00000358033.4:p.Ser382Leu | |
| ENST00000369037.8:c.1145C>T | ENSP00000358033.4:p.Ser382Leu | |
| NM_020381.3:c.1145C>T | NP_065114.3:p.Ser382Leu | |
| XM_011535956.1:c.1343C>T | XP_011534258.1:p.Ser448Leu | |
| XM_011535957.1:c.1211C>T | XP_011534259.1:p.Ser404Leu | |
| XM_011535958.1:c.1208C>T | XP_011534260.1:p.Ser403Leu | |
| XM_011535959.1:c.1013C>T | XP_011534261.1:p.Ser338Leu | |
| XM_011535960.1:c.935C>T | XP_011534262.1:p.Ser312Leu | |
| XM_011535961.1:c.839C>T | XP_011534263.1:p.Ser280Leu | |
| XM_011535962.1:c.737C>T | XP_011534264.1:p.Ser246Leu | |
| XM_011535956.3:c.1343C>T | XP_011534258.1:p.Ser448Leu | |
| XM_011535957.3:c.1211C>T | XP_011534259.1:p.Ser404Leu | |
| XM_011535958.3:c.1208C>T | XP_011534260.1:p.Ser403Leu | |
| XM_011535959.3:c.1013C>T | XP_011534261.1:p.Ser338Leu | |
| XM_011535960.3:c.935C>T | XP_011534262.1:p.Ser312Leu | |
| XM_011535961.3:c.839C>T | XP_011534263.1:p.Ser280Leu | |
| XM_011535962.2:c.737C>T | XP_011534264.1:p.Ser246Leu | |
| NM_020381.4:c.1145C>T MANE Select | NP_065114.3:p.Ser382Leu |