Revel Score:
ENST00000355072 (MANE Select)
0.657
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00013632 (MID)
Genomes Max Group AF
0.00001171 (NFE)
Exomes Max Group AF
0.0001443 (MID)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.3131647C>T , CM000666.2:g.3131647C>T | GRCh38 |
| NC_000004.11:g.3133374C>T , CM000666.1:g.3133374C>T | GRCh37 |
| NC_000004.10:g.3103172C>T | NCBI36 |
| NG_009378.1:g.61973C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355072.11:c.2108C>T MANE Select | ENSP00000347184.5:p.Pro703Leu | |
| ENST00000355072.10:c.2108C>T | ENSP00000347184.5:p.Pro703Leu | |
| ENST00000680239.1:c.1850C>T | ENSP00000506169.1:p.Pro617Leu | |
| ENST00000680291.1:n.2205C>T | ||
| ENST00000680360.1:c.1850C>T | ENSP00000505014.1:p.Pro617Leu | |
| ENST00000680956.1:c.1850C>T | ENSP00000506029.1:p.Pro617Leu | |
| ENST00000681528.1:c.1850C>T | ENSP00000506116.1:p.Pro617Leu | |
| ENST00000355072.9:c.2108C>T | ENSP00000347184.5:p.Pro703Leu | |
| ENST00000510626.5:n.2207C>T | ||
| NM_002111.7:c.2114C>T | NP_002102.4:p.Pro705Leu | |
| NM_002111.8:c.2114C>T | NP_002102.4:p.Pro705Leu | |
| NM_001388492.1:c.2108C>T MANE Select | NP_001375421.1:p.Pro703Leu |