Revel Score:
ENST00000525557
0.855
ENST00000393265
0.791
ENST00000531433
0.791
ENST00000532405 (MANE Select)
0.791
ENST00000298877
0.791
ENST00000351924
0.791
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.92486738A>T , CM000676.2:g.92486738A>T | GRCh38 |
| NC_000014.8:g.92953082A>T , CM000676.1:g.92953082A>T | GRCh37 |
| NC_000014.7:g.92022835A>T | NCBI36 |
| NG_023408.1:g.169158A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000532405.6:c.1495A>T MANE Select | ENSP00000431840.1:p.Ser499Cys | |
| ENST00000676001.1:c.1495A>T | ENSP00000502715.1:p.Ser499Cys | |
| ENST00000393265.6:c.1303A>T | ENSP00000376948.2:p.Ser435Cys | |
| ENST00000525557.5:c.1091A>T | ||
| ENST00000526482.1:n.1749A>T | ||
| ENST00000531433.5:c.1438A>T | ENSP00000433302.1:p.Ser480Cys | |
| ENST00000532405.5:c.1495A>T | ENSP00000431840.1:p.Ser499Cys | |
| ENST00000554925.5:n.948A>T | ||
| NM_153646.3:c.1495A>T | NP_705932.2:p.Ser499Cys | |
| NM_153647.3:c.1438A>T | NP_705933.2:p.Ser480Cys | |
| NM_153648.3:c.1303A>T | NP_705934.1:p.Ser435Cys | |
| XM_011536436.1:c.1636A>T | XP_011534738.1:p.Ser546Cys | |
| XM_011536437.1:c.1579A>T | XP_011534739.1:p.Ser527Cys | |
| XM_011536438.1:c.1636A>T | XP_011534740.1:p.Ser546Cys | |
| XM_011536439.1:c.1579A>T | XP_011534741.1:p.Ser527Cys | |
| XM_011536440.1:c.745A>T | XP_011534742.1:p.Ser249Cys | |
| XM_011536441.1:c.577A>T | XP_011534743.1:p.Ser193Cys | |
| XM_011536442.1:c.577A>T | XP_011534744.1:p.Ser193Cys | |
| XM_011536436.2:c.1636A>T | XP_011534738.1:p.Ser546Cys | |
| XM_011536437.2:c.1579A>T | XP_011534739.1:p.Ser527Cys | |
| XM_011536438.2:c.1636A>T | XP_011534740.1:p.Ser546Cys | |
| XM_011536439.2:c.1579A>T | XP_011534741.1:p.Ser527Cys | |
| XM_011536440.2:c.745A>T | XP_011534742.1:p.Ser249Cys | |
| XM_024449478.1:c.1438A>T | XP_024305246.1:p.Ser480Cys | |
| NM_153647.4:c.1438A>T | NP_705933.2:p.Ser480Cys | |
| NM_001378620.1:c.1495A>T | NP_001365549.1:p.Ser499Cys | |
| NM_153646.4:c.1495A>T MANE Select | NP_705932.2:p.Ser499Cys | |
| NM_153648.4:c.1303A>T | NP_705934.1:p.Ser435Cys |