Revel Score:
ENST00000428762 (MANE Select)
0.481
ENST00000343529
0.481
ENST00000424685
0.481
ENST00000448171
0.481
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00515597 (NFE)
Genomes Max Group AF
0.00520896 (NFE)
Exomes Max Group AF
0.00512706 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.103565380G>C , CM000669.2:g.103565380G>C | GRCh38 |
| NC_000007.13:g.103205827G>C , CM000669.1:g.103205827G>C | GRCh37 |
| NC_000007.12:g.102993063G>C | NCBI36 |
| NG_011877.1:g.429137C>G | |
| NG_011877.2:g.429137C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000424685.3:c.5108C>G | ENSP00000388446.3:p.Pro1703Arg | |
| ENST00000428762.6:c.5108C>G MANE Select | ENSP00000392423.1:p.Pro1703Arg | |
| ENST00000679867.1:n.4992C>G | ||
| ENST00000680706.1:n.2811C>G | ||
| ENST00000681034.1:c.5108C>G | ENSP00000506075.1:p.Pro1703Arg | |
| ENST00000343529.9:c.5108C>G | ENSP00000345694.5:p.Pro1703Arg | |
| ENST00000424685.2:c.5108C>G | ENSP00000388446.2:p.Pro1703Arg | |
| ENST00000428762.5:c.5108C>G | ENSP00000392423.1:p.Pro1703Arg | |
| NM_005045.3:c.5108C>G | NP_005036.2:p.Pro1703Arg | |
| NM_173054.2:c.5108C>G | NP_774959.1:p.Pro1703Arg | |
| NM_005045.4:c.5108C>G MANE Select | NP_005036.2:p.Pro1703Arg | |
| NM_173054.3:c.5108C>G | NP_774959.1:p.Pro1703Arg |