Revel Score:
ENST00000535699
0.827
ENST00000367400 (MANE Select)
0.827
ENST00000367399
0.827
ENST00000544212
0.827
ENST00000367397
0.827
ENST00000367401
0.827
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00000553 (AMR)
Exomes Max Group AF
0.00000742 (AMR)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.197427826G>A , CM000663.2:g.197427826G>A | GRCh38 |
| NC_000001.10:g.197396956G>A , CM000663.1:g.197396956G>A | GRCh37 |
| NC_000001.9:g.195663579G>A | NCBI36 |
| NG_008483.1:g.164549G>A | |
| NG_008483.2:g.231365G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367400.8:c.2501G>A MANE Select | ENSP00000356370.3:p.Gly834Asp | |
| ENST00000638467.1:c.2501G>A | ENSP00000491102.1:p.Gly834Asp | |
| ENST00000681519.1:c.1382G>A | ENSP00000505267.1:p.Gly461Asp | |
| ENST00000367397.1:c.644G>A | ENSP00000356367.1:p.Gly215Asp | |
| ENST00000367399.6:c.2165G>A | ENSP00000356369.2:p.Gly722Asp | |
| ENST00000367400.7:c.2501G>A | ENSP00000356370.3:p.Gly834Asp | |
| ENST00000480086.2:n.402G>A | ||
| ENST00000484075.5:c.2501G>A | ENSP00000433932.1:p.Gly834Asp | |
| ENST00000535699.5:c.2294G>A | ENSP00000438786.1:p.Gly765Asp | |
| ENST00000538660.5:c.2128+5870G>A | ENSP00000438091.1:n.2128+5870G>A | |
| NM_001193640.1:c.2165G>A | NP_001180569.1:p.Gly722Asp | |
| NM_001257965.1:c.2294G>A | NP_001244894.1:p.Gly765Asp | |
| NM_001257966.1:c.2128+5870G>A | NP_001244895.1:n.2128+5870G>A | |
| NM_201253.2:c.2501G>A | NP_957705.1:p.Gly834Asp | |
| NR_047563.1:n.2502G>A | ||
| NR_047564.1:n.2710G>A | ||
| XM_011509365.1:c.2501G>A | XP_011507667.1:p.Gly834Asp | |
| XM_011509366.1:c.2501G>A | XP_011507668.1:p.Gly834Asp | |
| XM_011509367.1:c.2501G>A | XP_011507669.1:p.Gly834Asp | |
| XM_011509368.1:c.1919G>A | XP_011507670.1:p.Gly640Asp | |
| XM_011509369.1:c.944G>A | XP_011507671.1:p.Gly315Asp | |
| XM_011509365.2:c.2501G>A | XP_011507667.1:p.Gly834Asp | |
| XM_011509369.2:c.944G>A | XP_011507671.1:p.Gly315Asp | |
| XM_017000851.1:c.1658G>A | XP_016856340.1:p.Gly553Asp | |
| XM_017000852.1:c.2501G>A | XP_016856341.1:p.Gly834Asp | |
| NM_201253.3:c.2501G>A MANE Select | NP_957705.1:p.Gly834Asp | |
| NM_001193640.2:c.2165G>A | NP_001180569.1:p.Gly722Asp | |
| NM_001257965.2:c.2294G>A | NP_001244894.1:p.Gly765Asp | |
| NR_047563.2:n.2454G>A | ||
| NR_047564.2:n.2662G>A | ||
| NM_001257966.2:c.2128+5870G>A | NP_001244895.1:n.2128+5870G>A |