Revel Score:
ENST00000367698 (MANE Select)
0.654
ENST00000351522
0.654
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00002977 (EAS)
Genomes Max Group AF
0.00007282 (SAS)
Exomes Max Group AF
0.00002003 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.173911981A>G , CM000663.2:g.173911981A>G | GRCh38 |
| NC_000001.10:g.173881119A>G , CM000663.1:g.173881119A>G | GRCh37 |
| NC_000001.9:g.172147742A>G | NCBI36 |
| NG_012462.1:g.10398T>C , LRG_577:g.10398T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367698.4:c.442T>C MANE Select | ENSP00000356671.3:p.Ser148Pro | |
| ENST00000367698.3:c.442T>C | ENSP00000356671.3:p.Ser148Pro | |
| ENST00000487183.1:n.147T>C | ||
| ENST00000494024.1:n.668T>C | ||
| ENST00000617423.4:c.442T>C | ENSP00000478688.1:p.Ser148Pro | |
| NM_000488.3:c.442T>C , LRG_577t1:c.442T>C | NP_000479.1:p.Ser148Pro | |
| XM_005245198.2:c.298T>C | XP_005245255.1:p.Ser100Pro | |
| NM_001365052.1:c.298T>C | NP_001351981.1:p.Ser100Pro | |
| NM_000488.4:c.442T>C MANE Select | NP_000479.1:p.Ser148Pro | |
| NM_001365052.2:c.298T>C | NP_001351981.1:p.Ser100Pro | |
| NM_001386302.1:c.442T>C | NP_001373231.1:p.Ser148Pro | |
| NM_001386303.1:c.523T>C | NP_001373232.1:p.Ser175Pro | |
| NM_001386304.1:c.442T>C | NP_001373233.1:p.Ser148Pro | |
| NM_001386305.1:c.442T>C | NP_001373234.1:p.Ser148Pro | |
| NM_001386306.1:c.409-1090T>C | NP_001373235.1:n.409-1090T>C |