Revel Score:
ENST00000330342 (MANE Select)
0.614
ENST00000541854
0.614
ENST00000504192
0.614
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00044845 (NFE)
Genomes Max Group AF
0.00024294 (NFE)
Exomes Max Group AF
0.00045517 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.123724781G>T , CM000674.2:g.123724781G>T | GRCh38 |
| NC_000012.11:g.124209328G>T , CM000674.1:g.124209328G>T | GRCh37 |
| NC_000012.10:g.122775281G>T | NCBI36 |
| NG_012743.1:g.17464G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000330342.8:c.422G>T MANE Select | ENSP00000332247.2:p.Arg141Leu | |
| ENST00000540368.6:n.453G>T | ||
| ENST00000613625.5:c.422G>T | ENSP00000482236.1:p.Arg141Leu | |
| ENST00000675344.1:c.422G>T | ENSP00000501953.1:p.Arg141Leu | |
| ENST00000330342.7:c.422G>T | ENSP00000332247.2:p.Arg141Leu | |
| ENST00000504192.2:c.32G>T | ENSP00000443441.1:p.Arg11Leu | |
| ENST00000540368.5:n.632G>T | ||
| ENST00000613625.4:c.422G>T | ENSP00000482236.1:p.Arg141Leu | |
| NM_012463.3:c.422G>T | NP_036595.2:p.Arg141Leu | |
| XM_005253563.1:c.422G>T | XP_005253620.1:p.Arg141Leu | |
| XM_006719317.2:c.-3G>T | XP_006719380.1:n.-3G>T | |
| XR_429088.1:n.585G>T | ||
| XM_024448910.1:c.422G>T | XP_024304678.1:p.Arg141Leu | |
| XM_024448911.1:c.-3G>T | XP_024304679.1:n.-3G>T | |
| NM_012463.4:c.422G>T MANE Select | NP_036595.2:p.Arg141Leu |