Revel Score:
ENST00000248633 (MANE Select)
0.885
ENST00000428214
0.885
ENST00000545192
0.885
ClinVar RCV:
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92519012C>A , CM000669.2:g.92519012C>A | GRCh38 |
| NC_000007.13:g.92148326C>A , CM000669.1:g.92148326C>A | GRCh37 |
| NC_000007.12:g.91986262C>A | NCBI36 |
| NG_008341.1:g.14520G>T | |
| NG_008341.2:g.14520G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248633.9:c.340G>T MANE Select | ENSP00000248633.4:p.Asp114Tyr | |
| ENST00000248633.8:c.340G>T | ENSP00000248633.4:p.Asp114Tyr | |
| ENST00000428214.5:c.340G>T | ENSP00000394413.1:p.Asp114Tyr | |
| ENST00000438045.5:c.273+3090G>T | ENSP00000410438.1:n.273+3090G>T | |
| ENST00000484913.5:n.344G>T | ||
| NM_000466.2:c.340G>T | NP_000457.1:p.Asp114Tyr | |
| NM_001282677.1:c.340G>T | NP_001269606.1:p.Asp114Tyr | |
| NM_001282678.1:c.-320G>T | NP_001269607.1:n.-320G>T | |
| XR_242246.3:n.436G>T | ||
| XR_242246.5:n.387G>T | ||
| NM_000466.3:c.340G>T MANE Select | NP_000457.1:p.Asp114Tyr | |
| NM_001282677.2:c.340G>T | NP_001269606.1:p.Asp114Tyr | |
| NM_001282678.2:c.-320G>T | NP_001269607.1:n.-320G>T |