Revel Score:
ENST00000399402
0.765
ENST00000307363 (MANE Select)
0.765
ENST00000445488
0.765
ENST00000307377
0.765
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.33014094G>A , CM000665.2:g.33014094G>A | GRCh38 |
| NC_000003.11:g.33055586G>A , CM000665.1:g.33055586G>A | GRCh37 |
| NC_000003.10:g.33030590G>A | NCBI36 |
| NG_009005.1:g.88109C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307363.10:c.1696C>T MANE Select | ENSP00000306920.4:p.Pro566Ser | |
| ENST00000307363.9:c.1696C>T | ENSP00000306920.4:p.Pro566Ser | |
| ENST00000307377.12:c.1303C>T | ENSP00000305920.8:p.Pro435Ser | |
| ENST00000399402.7:c.1606C>T | ENSP00000382333.2:p.Pro536Ser | |
| ENST00000461475.5:n.795C>T | ||
| NM_000404.2:c.1696C>T | NP_000395.2:p.Pro566Ser | |
| NM_000404.3:c.1696C>T | NP_000395.2:p.Pro566Ser | |
| NM_001079811.1:c.1606C>T | NP_001073279.1:p.Pro536Ser | |
| NM_001079811.2:c.1606C>T | NP_001073279.1:p.Pro536Ser | |
| NM_001135602.1:c.1303C>T | NP_001129074.1:p.Pro435Ser | |
| NM_001135602.2:c.1303C>T | NP_001129074.1:p.Pro435Ser | |
| NM_001317040.1:c.1840C>T | NP_001303969.1:p.Pro614Ser | |
| NM_000404.4:c.1696C>T MANE Select | NP_000395.3:p.Pro566Ser | |
| NM_001079811.3:c.1606C>T | NP_001073279.2:p.Pro536Ser | |
| NM_001135602.3:c.1303C>T | NP_001129074.2:p.Pro435Ser | |
| NM_001317040.2:c.1840C>T | NP_001303969.2:p.Pro614Ser | |
| NM_001393580.1:c.1696C>T | NP_001380509.1:p.Pro566Ser |