ClinGen Evidence Repository:
Classification
Pathogenic
Revel Score:
ENST00000373203 (MANE Select)
0.562
ENST00000344849
0.562
ENST00000545345
0.562
ENST00000546301
0.562
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.127820027C>T , CM000671.2:g.127820027C>T | GRCh38 |
| NC_000009.11:g.130582306C>T , CM000671.1:g.130582306C>T | GRCh37 |
| NC_000009.10:g.129622127C>T | NCBI36 |
| NG_009551.1:g.39742G>A , LRG_589:g.39742G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000480266.6:c.599G>A | ENSP00000479015.1:p.Cys200Tyr | |
| ENST00000373203.9:c.1145G>A MANE Select | ENSP00000362299.4:p.Cys382Tyr | |
| ENST00000344849.4:c.1145G>A | ENSP00000341917.3:p.Cys382Tyr | |
| ENST00000373203.8:c.1145G>A | ENSP00000362299.4:p.Cys382Tyr | |
| ENST00000480266.5:c.599G>A | ENSP00000479015.1:p.Cys200Tyr | |
| ENST00000486329.1:n.113G>A | ||
| NM_000118.3:c.1145G>A , LRG_589t1:c.1145G>A | NP_000109.1:p.Cys382Tyr | |
| NM_001114753.2:c.1145G>A , LRG_589t2:c.1145G>A | NP_001108225.1:p.Cys382Tyr | |
| NM_001278138.1:c.599G>A | NP_001265067.1:p.Cys200Tyr | |
| NR_136302.1:n.1569-1168C>T | ||
| NM_001114753.3:c.1145G>A MANE Select | NP_001108225.1:p.Cys382Tyr | |
| NM_001278138.2:c.599G>A | NP_001265067.1:p.Cys200Tyr |