Revel Score:
ENST00000399402
0.129
ENST00000307363 (MANE Select)
0.129
ENST00000445488
0.129
ENST00000307377
0.129
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.33014229A>T , CM000665.2:g.33014229A>T | GRCh38 |
| NC_000003.11:g.33055721A>T , CM000665.1:g.33055721A>T | GRCh37 |
| NC_000003.10:g.33030725A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307363.10:c.1561T>A MANE Select | ENSP00000306920.4:p.Cys521Ser | |
| ENST00000307363.9:c.1561T>A | ENSP00000306920.4:p.Cys521Ser | |
| ENST00000307377.12:c.1168T>A | ENSP00000305920.8:p.Cys390Ser | |
| ENST00000399402.7:c.1471T>A | ENSP00000382333.2:p.Cys491Ser | |
| ENST00000461475.5:n.660T>A | ||
| ENST00000497796.5:n.813T>A | ||
| NM_000404.4:c.1561T>A MANE Select | NP_000395.3:p.Cys521Ser | |
| NM_001079811.3:c.1471T>A | NP_001073279.2:p.Cys491Ser | |
| NM_001135602.3:c.1168T>A | NP_001129074.2:p.Cys390Ser | |
| NM_001317040.2:c.1705T>A | NP_001303969.2:p.Cys569Ser | |
| NM_001393580.1:c.1561T>A | NP_001380509.1:p.Cys521Ser |