Revel Score:
ENST00000442011 (MANE Select)
0.491
ENST00000398813
0.491
ENST00000305126
0.491
ENST00000514554
0.731
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00077175 (MID)
Genomes Max Group AF
0.00002261 (AMR)
Exomes Max Group AF
0.00081411 (MID)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.136055770C>G , CM000667.2:g.136055770C>G | GRCh38 |
| NC_000005.9:g.135391459C>G , CM000667.1:g.135391459C>G | GRCh37 |
| NC_000005.8:g.135419358C>G | NCBI36 |
| NG_012646.1:g.31876C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000442011.7:c.1501C>G MANE Select | ENSP00000416330.2:p.Pro501Ala | |
| ENST00000442011.6:c.1501C>G | ENSP00000416330.2:p.Pro501Ala | |
| ENST00000506699.5:n.2018C>G | ||
| ENST00000507018.5:c.1479C>G | ||
| ENST00000509485.5:c.416C>G | ||
| ENST00000514242.5:n.272C>G | ||
| ENST00000514554.5:c.653C>G | ||
| NM_000358.2:c.1501C>G | NP_000349.1:p.Pro501Ala | |
| NM_000358.3:c.1501C>G MANE Select | NP_000349.1:p.Pro501Ala |