ClinVar Variation:
dbSNP:
gnomAD v4:
Revel Score:
ENST00000467482 (MANE Select)
0.695
ENST00000380929
0.695
ENST00000431126
0.695
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.9759332C>T , CM000685.2:g.9759332C>T | GRCh38 |
| NC_000023.10:g.9727372C>T , CM000685.1:g.9727372C>T | GRCh37 |
| NC_000023.9:g.9687372C>T | NCBI36 |
| NG_009074.1:g.11546G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000467482.6:c.455G>A MANE Select | ENSP00000417161.1:p.Ser152Asn | |
| ENST00000431126.1:c.203G>A | ENSP00000406138.1:p.Ser68Asn | |
| ENST00000447366.5:c.203G>A | ENSP00000390546.2:p.Ser68Asn | |
| ENST00000467482.5:c.455G>A | ENSP00000417161.1:p.Ser152Asn | |
| ENST00000480178.1:n.63G>A | ||
| NM_000273.2:c.455G>A | NP_000264.2:p.Ser152Asn | |
| XM_005274541.2:c.455G>A | XP_005274598.1:p.Ser152Asn | |
| XM_005274541.3:c.455G>A | XP_005274598.1:p.Ser152Asn | |
| XM_024452387.1:c.203G>A | XP_024308155.1:p.Ser68Asn | |
| XM_024452388.1:c.203G>A | XP_024308156.1:p.Ser68Asn | |
| NM_000273.3:c.455G>A MANE Select | NP_000264.2:p.Ser152Asn |