Revel Score:
ENST00000308418 (MANE Select)
0.706
ENST00000528220
0.706
ENST00000527610
0.706
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001425 (SAS)
Exomes Max Group AF
0.00000924 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.65720085T>A , CM000673.2:g.65720085T>A | GRCh38 |
| NC_000011.9:g.65487556T>A , CM000673.1:g.65487556T>A | GRCh37 |
| NC_000011.8:g.65244132T>A | NCBI36 |
| NG_008976.2:g.5854A>T , LRG_280:g.5854A>T | |
| NG_033057.1:g.13084T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000308418.10:c.428A>T MANE Select | ENSP00000308193.5:p.Lys143Ile | |
| ENST00000528220.2:n.657A>T | ||
| ENST00000531596.6:c.428A>T | ENSP00000435717.2:p.Lys143Ile | |
| ENST00000534482.6:c.428A>T | ENSP00000432081.2:p.Lys143Ile | |
| ENST00000642430.1:n.321A>T | ||
| ENST00000643214.1:n.502A>T | ||
| ENST00000644142.1:c.428A>T | ENSP00000493695.1:p.Lys143Ile | |
| ENST00000644198.1:n.325A>T | ||
| ENST00000646597.1:n.365A>T | ||
| ENST00000308418.8:c.428A>T | ENSP00000308193.4:p.Lys143Ile | |
| ENST00000527610.1:c.428A>T | ENSP00000432897.1:p.Lys143Ile | |
| ENST00000528220.1:c.179A>T | ENSP00000431555.1:p.Lys60Ile | |
| ENST00000530192.1:n.545A>T | ||
| ENST00000531596.5:c.409A>T | ||
| ENST00000533698.5:c.307A>T | ||
| ENST00000534482.5:c.322A>T | ||
| NM_032193.3:c.428A>T , LRG_280t1:c.428A>T | NP_115569.2:p.Lys143Ile | |
| NM_032193.4:c.428A>T MANE Select | NP_115569.2:p.Lys143Ile |