ClinGen Evidence Repository:
Classification
Likely Pathogenic
COSMIC:
Revel Score:
ENST00000303115 (MANE Select)
0.886
ENST00000343305
0.886
ENST00000506850
0.886
gnomAD v2:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.35871070C>T , CM000667.2:g.35871070C>T | GRCh38 |
| NC_000005.9:g.35871172C>T , CM000667.1:g.35871172C>T | GRCh37 |
| NC_000005.8:g.35906929C>T | NCBI36 |
| NG_009567.1:g.19182C>T , LRG_74:g.19182C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000303115.8:c.394C>T MANE Select | ENSP00000306157.3:p.Pro132Ser | |
| ENST00000303115.7:c.394C>T | ENSP00000306157.3:p.Pro132Ser | |
| ENST00000506850.5:c.394C>T | ENSP00000421207.1:p.Pro132Ser | |
| ENST00000514217.5:c.394C>T | ENSP00000427688.1:p.Pro132Ser | |
| NM_002185.3:c.394C>T | NP_002176.2:p.Pro132Ser | |
| NR_120485.1:n.497C>T | ||
| XM_005248299.2:c.394C>T | XP_005248356.1:p.Pro132Ser | |
| XM_005248300.1:c.394C>T | XP_005248357.1:p.Pro132Ser | |
| XM_011514037.1:c.394C>T | XP_011512339.1:p.Pro132Ser | |
| NM_002185.4:c.394C>T | NP_002176.2:p.Pro132Ser | |
| NR_120485.2:n.523C>T | ||
| XM_005248299.4:c.394C>T | XP_005248356.1:p.Pro132Ser | |
| NM_002185.5:c.394C>T MANE Select | NP_002176.2:p.Pro132Ser | |
| NR_120485.3:n.481C>T |