Revel Score:
ENST00000283871 (MANE Select)
0.966
ENST00000494453
0.840
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00004183 (NFE)
Genomes Max Group AF
0.00000488 (NFE)
Exomes Max Group AF
0.00004265 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.120638562A>C , CM000665.2:g.120638562A>C | GRCh38 |
| NC_000003.11:g.120357409A>C , CM000665.1:g.120357409A>C | GRCh37 |
| NC_000003.10:g.121840099A>C | NCBI36 |
| NG_011957.1:g.48920T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000283871.10:c.899T>G MANE Select | ENSP00000283871.5:p.Val300Gly | |
| ENST00000283871.9:c.899T>G | ENSP00000283871.5:p.Val300Gly | |
| ENST00000470321.1:n.239T>G | ||
| ENST00000475447.2:c.307+3027T>G | ||
| ENST00000492108.5:c.285+3027T>G | ENSP00000419838.1:n.285+3027T>G | |
| ENST00000494453.1:c.319T>G | ||
| NM_000187.3:c.899T>G | NP_000178.2:p.Val300Gly | |
| XM_005247412.1:c.674T>G | XP_005247469.1:p.Val225Gly | |
| XM_005247413.1:c.899T>G | XP_005247470.1:p.Val300Gly | |
| XM_011512746.1:c.879+3027T>G | XP_011511048.1:n.879+3027T>G | |
| XM_005247412.2:c.674T>G | XP_005247469.1:p.Val225Gly | |
| XM_005247413.2:c.899T>G | XP_005247470.1:p.Val300Gly | |
| XM_011512746.2:c.879+3027T>G | XP_011511048.1:n.879+3027T>G | |
| XM_017006277.2:c.476T>G | XP_016861766.1:p.Val159Gly | |
| NM_000187.4:c.899T>G MANE Select | NP_000178.2:p.Val300Gly |