Revel Score:
ENST00000424908
0.367
ENST00000333868 (MANE Select)
0.384
ENST00000348549
0.384
ENST00000375874
0.384
ENST00000375890
0.384
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00000429 (NFE)
Exomes Max Group AF
0.00000455 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.15492997C>A , CM000663.2:g.15492997C>A | GRCh38 |
| NC_000001.10:g.15819492C>A , CM000663.1:g.15819492C>A | GRCh37 |
| NC_000001.9:g.15692079C>A | NCBI36 |
| NG_029188.1:g.36794G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000333868.10:c.1197G>T MANE Select | ENSP00000330237.5:p.Gln399His | |
| ENST00000333868.9:c.1197G>T | ENSP00000330237.5:p.Gln399His | |
| ENST00000348549.9:c.747G>T | ENSP00000255256.7:p.Gln249His | |
| ENST00000375890.8:c.948G>T | ENSP00000365051.4:p.Gln316His | |
| ENST00000400777.7:c.1247G>T | ||
| ENST00000424908.5:c.541G>T | ||
| ENST00000474305.2:c.1057G>T | ENSP00000449216.1:n.1057G>T | |
| ENST00000546424.5:c.*787G>T | ENSP00000449584.1:n.*787G>T | |
| NM_001229.4:c.1197G>T | NP_001220.2:p.Gln399His | |
| NM_001278054.1:c.747G>T | NP_001264983.1:p.Gln249His | |
| NM_032996.3:c.948G>T | NP_127463.2:p.Gln316His | |
| NR_102732.1:n.1500G>T | ||
| NR_102733.1:n.1302G>T | ||
| XM_005246014.2:c.948G>T | XP_005246071.1:p.Gln316His | |
| XM_011542271.1:c.948G>T | XP_011540573.1:p.Gln316His | |
| XM_011542272.1:c.948G>T | XP_011540574.1:p.Gln316His | |
| XR_946778.1:n.1124G>T | ||
| NM_001229.5:c.1197G>T MANE Select | NP_001220.2:p.Gln399His | |
| NM_001278054.2:c.747G>T | NP_001264983.1:p.Gln249His | |
| NR_102732.2:n.1270G>T | ||
| NR_102733.2:n.1072G>T |