Revel Score:
ENST00000260630
0.122
ENST00000407341
0.122
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.38070850T>G , CM000664.2:g.38070850T>G | GRCh38 |
| NC_000002.11:g.38297993T>G , CM000664.1:g.38297993T>G | GRCh37 |
| NC_000002.10:g.38151497T>G | NCBI36 |
| NG_008386.2:g.10252A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000490576.2:c.1504A>C | ENSP00000478839.2:p.Lys502Gln | |
| ENST00000610745.5:c.1504A>C MANE Select | ENSP00000478561.1:p.Lys502Gln | |
| ENST00000494864.1:c.391A>C | ENSP00000479876.1:p.Lys131Gln | |
| ENST00000610745.4:c.1504A>C | ENSP00000478561.1:p.Lys502Gln | |
| ENST00000614273.1:c.1504A>C | ENSP00000483678.1:p.Lys502Gln | |
| NM_000104.3:c.1504A>C | NP_000095.2:p.Lys502Gln | |
| NM_000104.4:c.1504A>C MANE Select | NP_000095.2:p.Lys502Gln |