Revel Score:
ENST00000295934 (MANE Select)
0.724
ENST00000473921
0.724
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00006479 (NFE)
Genomes Max Group AF
0.00000488 (NFE)
Exomes Max Group AF
0.00006699 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.57198246G>A , CM000665.2:g.57198246G>A | GRCh38 |
| NC_000003.11:g.57232274G>A , CM000665.1:g.57232274G>A | GRCh37 |
| NC_000003.10:g.57207314G>A | NCBI36 |
| NG_008242.1:g.7007C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295934.8:c.509C>T MANE Select | ENSP00000295934.3:p.Ser170Leu | |
| ENST00000647958.1:c.509C>T | ENSP00000498190.1:p.Ser170Leu | |
| ENST00000295934.7:c.509C>T | ENSP00000295934.3:p.Ser170Leu | |
| ENST00000473921.2:c.407C>T | ENSP00000418918.1:p.Ser136Leu | |
| NM_003865.2:c.509C>T | NP_003856.1:p.Ser170Leu | |
| XM_005265526.3:c.509C>T | XP_005265583.1:p.Ser170Leu | |
| XM_006713379.2:c.509C>T | XP_006713442.1:p.Ser170Leu | |
| XM_011534204.1:c.509C>T | XP_011532506.1:p.Ser170Leu | |
| XM_011534205.1:c.509C>T | XP_011532507.1:p.Ser170Leu | |
| XM_005265526.4:c.509C>T | XP_005265583.1:p.Ser170Leu | |
| XM_011534204.2:c.509C>T | XP_011532506.1:p.Ser170Leu | |
| XM_011534205.2:c.509C>T | XP_011532507.1:p.Ser170Leu | |
| XM_017007421.1:c.509C>T | XP_016862910.1:p.Ser170Leu | |
| XM_024453809.1:c.509C>T | XP_024309577.1:p.Ser170Leu | |
| NM_003865.3:c.509C>T MANE Select | NP_003856.1:p.Ser170Leu | |
| NM_001376058.1:c.509C>T | NP_001362987.1:p.Ser170Leu | |
| NM_001376059.1:c.509C>T | NP_001362988.1:p.Ser170Leu | |
| NM_001376060.1:c.509C>T | NP_001362989.1:p.Ser170Leu | |
| NM_001376061.1:c.509C>T | NP_001362990.1:p.Ser170Leu | |
| NR_164757.1:n.1002C>T |