Revel Score:
ENST00000310581 (MANE Select)
0.212
ENST00000334602
0.212
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00003471 (AFR)
Genomes Max Group AF
0.00003248 (AFR)
Exomes Max Group AF
0.00000989 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.1255355G>C , CM000667.2:g.1255355G>C | GRCh38 |
| NC_000005.9:g.1255470G>C , CM000667.1:g.1255470G>C | GRCh37 |
| NC_000005.8:g.1308470G>C | NCBI36 |
| NG_009265.1:g.44693C>G , LRG_343:g.44693C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000310581.10:c.3089C>G MANE Select | ENSP00000309572.5:p.Thr1030Arg | |
| ENST00000656021.1:c.*2635C>G | ENSP00000499759.1:n.*2635C>G | |
| ENST00000667927.1:n.377C>G | ||
| ENST00000310581.9:c.3089C>G | ENSP00000309572.5:p.Thr1030Arg | |
| ENST00000334602.10:c.2900C>G | ENSP00000334346.6:p.Thr967Arg | |
| ENST00000460137.6:c.2682C>G | ENSP00000425003.1:n.2682C>G | |
| ENST00000484238.6:n.1531C>G | ||
| NM_001193376.1:c.2900C>G | NP_001180305.1:p.Thr967Arg | |
| NM_198253.2:c.3089C>G , LRG_343t1:c.3089C>G | NP_937983.2:p.Thr1030Arg | |
| XM_011514104.1:c.1559C>G | XP_011512406.1:p.Thr520Arg | |
| XM_011514105.1:c.1445C>G | XP_011512407.1:p.Thr482Arg | |
| XM_011514106.1:c.1445C>G | XP_011512408.1:p.Thr482Arg | |
| XR_925683.1:n.396G>C | ||
| NR_149162.1:n.2776C>G | ||
| NR_149163.1:n.2740C>G | ||
| NM_001193376.2:c.2900C>G | NP_001180305.1:p.Thr967Arg | |
| NM_198253.3:c.3089C>G MANE Select | NP_937983.2:p.Thr1030Arg | |
| NR_149162.2:n.2797C>G | ||
| NR_149163.2:n.2761C>G | ||
| NM_001193376.3:c.2900C>G | NP_001180305.1:p.Thr967Arg | |
| NR_149162.3:n.2797C>G | ||
| NR_149163.3:n.2761C>G |