Revel Score:
ENST00000556009
0.063
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00000895 (SAS)
Exomes Max Group AF
0.00000946 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.74486378G>T , CM000676.2:g.74486378G>T | GRCh38 |
| NC_000014.8:g.74953081G>T , CM000676.1:g.74953081G>T | GRCh37 |
| NC_000014.7:g.74022834G>T | NCBI36 |
| NG_007117.1:g.12004C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000555619.6:c.141C>A MANE Select | ENSP00000451112.2:p.Cys47Ter | |
| ENST00000238633.6:c.141C>A | ENSP00000238633.2:p.Cys47Ter | |
| ENST00000434013.6:c.141C>A | ENSP00000412103.2:p.Cys47Ter | |
| ENST00000541064.5:c.141C>A | ENSP00000442488.1:p.Cys47Ter | |
| ENST00000553490.5:c.141C>A | ENSP00000451180.1:p.Cys47Ter | |
| ENST00000554482.1:c.109C>A | ENSP00000451314.1:p.Pro37Thr | |
| ENST00000555592.1:c.141C>A | ENSP00000450887.1:p.Cys47Ter | |
| ENST00000555619.5:c.141C>A | ENSP00000451112.1:p.Cys47Ter | |
| ENST00000556009.5:c.206C>A | ||
| ENST00000557510.5:c.141C>A | ENSP00000451206.1:p.Cys47Ter | |
| NM_006432.3:c.141C>A | NP_006423.1:p.Cys47Ter | |
| NM_001363688.1:c.141C>A | NP_001350617.1:p.Cys47Ter | |
| NM_006432.4:c.141C>A | NP_006423.1:p.Cys47Ter | |
| NM_001375440.1:c.141C>A | NP_001362369.1:p.Cys47Ter | |
| NM_006432.5:c.141C>A MANE Select | NP_006423.1:p.Cys47Ter |