Revel Score:
ENST00000418964
0.307
gnomAD v4:
Joint Max Group AF
0.00000124 (NFE)
Exomes Max Group AF
0.00000132 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.160706543G>T , CM000668.2:g.160706543G>T | GRCh38 |
| NC_000006.11:g.161127575G>T , CM000668.1:g.161127575G>T | GRCh37 |
| NC_000006.10:g.161047565G>T | NCBI36 |
| NG_016200.1:g.9351G>T , LRG_571:g.9351G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297289.9:c.49+4190G>T | ENSP00000516619.1:n.49+4190G>T | |
| ENST00000418964.2:c.186G>T | ENSP00000389424.2:p.Arg62Ser | |
| ENST00000494325.2:c.-41+1G>T | ENSP00000516620.1:n.-41+1G>T | |
| ENST00000706906.1:c.185+1G>T | ENSP00000516618.1:n.185+1G>T | |
| ENST00000308192.14:c.185+1G>T MANE Select | ENSP00000308938.9:n.185+1G>T | |
| ENST00000297289.8:n.94+4190G>T | ||
| ENST00000308192.13:c.185+1G>T | ENSP00000308938.9:n.185+1G>T | |
| ENST00000366924.6:c.185+1G>T | ENSP00000355891.2:n.185+1G>T | |
| ENST00000418964.1:c.186G>T | ENSP00000389424.1:p.Arg62Ser | |
| ENST00000462918.5:n.222+1G>T | ||
| ENST00000471691.1:n.168+1G>T | ||
| ENST00000483038.5:n.198+1G>T | ||
| ENST00000484367.5:n.1155+1G>T | ||
| ENST00000494325.1:n.169+1G>T | ||
| NM_000301.3:c.185+1G>T , LRG_571t1:c.185+1G>T | NP_000292.1:n.185+1G>T | |
| NM_001168338.1:c.185+1G>T , LRG_571t2:c.185+1G>T | NP_001161810.1:n.185+1G>T | |
| NM_000301.4:c.185+1G>T | NP_000292.1:n.185+1G>T | |
| NM_000301.5:c.185+1G>T MANE Select | NP_000292.1:n.185+1G>T |