ClinVar RCV:
ClinVar Variation:
dbSNP:
Revel Score:
ENST00000373588 (MANE Select)
0.971
ENST00000373587
0.971
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.124500125A>T , CM000671.2:g.124500125A>T | GRCh38 |
| NC_000009.11:g.127262404A>T , CM000671.1:g.127262404A>T | GRCh37 |
| NC_000009.10:g.126302225A>T | NCBI36 |
| NG_008176.1:g.12296T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373588.9:c.835T>A MANE Select | ENSP00000362690.4:p.Trp279Arg | |
| ENST00000373587.3:c.187T>A | ENSP00000362689.3:p.Trp63Arg | |
| ENST00000373588.8:c.835T>A | ENSP00000362690.4:p.Trp279Arg | |
| ENST00000620110.4:c.835T>A | ENSP00000483309.1:p.Trp279Arg | |
| NM_004959.4:c.835T>A | NP_004950.2:p.Trp279Arg | |
| XM_005251871.2:c.835T>A | XP_005251928.1:p.Trp279Arg | |
| XM_005251872.3:c.574T>A | XP_005251929.1:p.Trp192Arg | |
| XM_011518455.1:c.835T>A | XP_011516757.1:p.Trp279Arg | |
| XM_011518456.1:c.835T>A | XP_011516758.1:p.Trp279Arg | |
| NM_004959.5:c.835T>A MANE Select | NP_004950.2:p.Trp279Arg |