Revel Score:
ENST00000359596 (MANE Select)
0.938
ENST00000355481
0.938
ENST00000360985
0.938
gnomAD v3:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.38575959A>C , CM000681.2:g.38575959A>C | GRCh38 |
| NC_000019.9:g.39066599A>C , CM000681.1:g.39066599A>C | GRCh37 |
| NC_000019.8:g.43758439A>C | NCBI36 |
| NG_008866.1:g.147260A>C , LRG_766:g.147260A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000593677.2:c.1106A>C | ||
| ENST00000688602.1:c.2503A>C | ||
| ENST00000689936.1:c.2475A>C | ||
| ENST00000359596.8:c.14170A>C MANE Select | ENSP00000352608.2:p.Lys4724Gln | |
| ENST00000355481.8:c.14155A>C | ENSP00000347667.3:p.Lys4719Gln | |
| ENST00000359596.7:c.14170A>C | ENSP00000352608.2:p.Lys4724Gln | |
| ENST00000360985.7:c.14152A>C | ENSP00000354254.4:p.Lys4718Gln | |
| NM_000540.2:c.14170A>C , LRG_766t1:c.14170A>C | NP_000531.2:p.Lys4724Gln | |
| NM_001042723.1:c.14155A>C | NP_001036188.1:p.Lys4719Gln | |
| XM_006723317.1:c.14152A>C | XP_006723380.1:p.Lys4718Gln | |
| XM_006723319.1:c.14137A>C | XP_006723382.1:p.Lys4713Gln | |
| XM_011527204.1:c.14167A>C | XP_011525506.1:p.Lys4723Gln | |
| XM_011527205.1:c.14083A>C | XP_011525507.1:p.Lys4695Gln | |
| XM_006723317.2:c.14152A>C | XP_006723380.1:p.Lys4718Gln | |
| XM_006723319.2:c.14137A>C | XP_006723382.1:p.Lys4713Gln | |
| XM_011527205.2:c.14083A>C | XP_011525507.1:p.Lys4695Gln | |
| NM_000540.3:c.14170A>C MANE Select | NP_000531.2:p.Lys4724Gln | |
| NM_001042723.2:c.14155A>C | NP_001036188.1:p.Lys4719Gln |