COSMIC:
COSM6338052 (not active)
COSM6338053 (not active)
COSM6338054 (not active)
COSM6338055 (not active)
COSM6338056 (not active)
Revel Score:
ENST00000541284 (MANE Select)
0.115
ENST00000451834
0.115
ENST00000423368
0.115
ENST00000262563
0.115
ENST00000361528
0.115
ENST00000414802
0.115
ENST00000356162
0.115
ENST00000428680
0.115
ENST00000315544
0.115
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.02990928 (NFE)
Genomes Max Group AF
0.02779723 (NFE)
Exomes Max Group AF
0.02998077 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.135438312G>C , CM000669.2:g.135438312G>C | GRCh38 |
| NC_000007.13:g.135123060G>C , CM000669.1:g.135123060G>C | GRCh37 |
| NC_000007.12:g.134773600G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000707062.1:c.20C>G | ENSP00000516713.1:p.Ala7Gly | |
| ENST00000707063.1:c.20C>G | ENSP00000516714.1:p.Ala7Gly | |
| ENST00000707064.1:c.20C>G | ENSP00000516715.1:p.Ala7Gly | |
| ENST00000541284.6:c.20C>G MANE Select | ENSP00000445508.1:p.Ala7Gly | |
| ENST00000315544.6:c.20C>G | ENSP00000326731.5:p.Ala7Gly | |
| ENST00000361528.8:c.20C>G | ENSP00000354673.4:p.Ala7Gly | |
| ENST00000414802.5:c.20C>G | ENSP00000416532.1:p.Ala7Gly | |
| ENST00000423368.6:c.20C>G | ENSP00000406777.2:p.Ala7Gly | |
| ENST00000428680.6:c.20C>G | ENSP00000399108.2:p.Ala7Gly | |
| ENST00000451834.5:c.20C>G | ENSP00000388491.1:p.Ala7Gly | |
| ENST00000465721.1:n.362C>G | ||
| ENST00000491203.5:n.251C>G | ||
| ENST00000498534.5:n.249C>G | ||
| ENST00000541284.5:c.20C>G | ENSP00000445508.1:p.Ala7Gly | |
| NM_001008225.2:c.20C>G | NP_001008226.1:p.Ala7Gly | |
| NM_001190847.1:c.20C>G | NP_001177776.1:p.Ala7Gly | |
| NM_001190848.1:c.20C>G | NP_001177777.1:p.Ala7Gly | |
| NM_001190849.1:c.20C>G | NP_001177778.1:p.Ala7Gly | |
| NM_001190850.1:c.20C>G | NP_001177779.1:p.Ala7Gly | |
| NM_013316.3:c.20C>G | NP_037448.2:p.Ala7Gly | |
| XM_011516252.1:c.20C>G | XP_011514554.1:p.Ala7Gly | |
| XM_017012235.1:c.20C>G | XP_016867724.1:p.Ala7Gly | |
| XM_024446772.1:c.20C>G | XP_024302540.1:p.Ala7Gly | |
| NM_001190847.2:c.20C>G | NP_001177776.1:p.Ala7Gly | |
| NM_001190849.2:c.20C>G | NP_001177778.1:p.Ala7Gly | |
| NM_013316.4:c.20C>G | NP_037448.2:p.Ala7Gly | |
| NM_001008225.3:c.20C>G | NP_001008226.1:p.Ala7Gly | |
| NM_001190848.2:c.20C>G | NP_001177777.1:p.Ala7Gly | |
| NM_001190850.2:c.20C>G MANE Select | NP_001177779.1:p.Ala7Gly | |
| NM_001393370.1:c.20C>G | NP_001380299.1:p.Ala7Gly | |
| NM_001393371.1:c.20C>G | NP_001380300.1:p.Ala7Gly | |
| NM_001393372.1:c.20C>G | NP_001380301.1:p.Ala7Gly | |
| NM_001393373.1:c.20C>G | NP_001380302.1:p.Ala7Gly | |
| NM_001393374.1:c.20C>G | NP_001380303.1:p.Ala7Gly | |
| NM_001393375.1:c.20C>G | NP_001380304.1:p.Ala7Gly |