Revel Score:
ENST00000543138
0.539
ENST00000370132 (MANE Select)
0.539
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00000554 (AMR)
Exomes Max Group AF
0.00000742 (AMR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.100206250C>A , CM000663.2:g.100206250C>A | GRCh38 |
| NC_000001.10:g.100671806C>A , CM000663.1:g.100671806C>A | GRCh37 |
| NC_000001.9:g.100444394C>A | NCBI36 |
| NG_011852.2:g.48604G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000681617.1:c.1387G>T | ENSP00000505544.1:p.Gly463Trp | |
| ENST00000681780.1:c.718G>T | ENSP00000505780.1:p.Gly240Trp | |
| ENST00000370132.8:c.1261G>T MANE Select | ENSP00000359151.3:p.Gly421Trp | |
| NM_001918.3:c.1261G>T | NP_001909.3:p.Gly421Trp | |
| XM_005270545.2:c.718G>T | XP_005270602.1:p.Gly240Trp | |
| XM_005270546.2:c.718G>T | XP_005270603.1:p.Gly240Trp | |
| XM_005270545.4:c.718G>T | XP_005270602.1:p.Gly240Trp | |
| XM_017000468.2:c.718G>T | XP_016855957.1:p.Gly240Trp | |
| XM_017000469.2:c.718G>T | XP_016855958.1:p.Gly240Trp | |
| NM_001918.4:c.1261G>T | NP_001909.3:p.Gly421Trp | |
| NM_001918.5:c.1261G>T MANE Select | NP_001909.4:p.Gly421Trp | |
| NM_001399969.1:c.718G>T | NP_001386898.1:p.Gly240Trp | |
| NM_001399972.1:c.718G>T | NP_001386901.1:p.Gly240Trp | |
| NR_174363.1:n.1093G>T | ||
| NR_174364.1:n.1275G>T | ||
| NR_174365.1:n.1058G>T | ||
| NR_174366.1:n.1360G>T |