Revel Score:
ENST00000302823
0.355
ENST00000295854
0.355
ENST00000427473
0.355
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.203870886C>T , CM000664.2:g.203870886C>T | GRCh38 |
| NC_000002.11:g.204735609C>T , CM000664.1:g.204735609C>T | GRCh37 |
| NC_000002.10:g.204443854C>T | NCBI36 |
| NG_011502.1:g.8101C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696049.1:c.410C>T | ENSP00000512353.1:p.Pro137Leu | |
| ENST00000696479.1:c.482C>T | ENSP00000512655.1:p.Pro161Leu | |
| ENST00000427473.3:n.444C>T | ||
| ENST00000648405.2:c.410C>T MANE Select | ENSP00000497102.1:p.Pro137Leu | |
| ENST00000650075.1:n.434C>T | ||
| ENST00000295854.10:c.410C>T | ENSP00000295854.6:p.Pro137Leu | |
| ENST00000302823.7:c.410C>T | ENSP00000303939.3:p.Pro137Leu | |
| ENST00000427473.2:c.299C>T | ENSP00000409707.2:p.Pro100Leu | |
| ENST00000472206.1:c.172+238C>T | ENSP00000417779.1:n.172+238C>T | |
| ENST00000487393.1:n.110-1822C>T | ||
| NM_001037631.2:c.410C>T | NP_001032720.1:p.Pro137Leu | |
| NM_005214.4:c.410C>T | NP_005205.2:p.Pro137Leu | |
| XR_241294.1:n.550C>T | ||
| NM_001037631.3:c.410C>T | NP_001032720.1:p.Pro137Leu | |
| NM_005214.5:c.410C>T MANE Select | NP_005205.2:p.Pro137Leu |