Revel Score:
ENST00000554357
0.010
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00014089 (AMR)
Genomes Max Group AF
0.00002261 (AMR)
Exomes Max Group AF
0.00015445 (AMR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.91969802T>G , CM000676.2:g.91969802T>G | GRCh38 |
| NC_000014.8:g.92436146T>G , CM000676.1:g.92436146T>G | GRCh37 |
| NC_000014.7:g.91505899T>G | NCBI36 |
| NG_016970.1:g.75258A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000267622.8:c.5811A>C MANE Select | ENSP00000267622.4:p.Gly1937= | |
| ENST00000554357.5:c.4957A>C | ||
| NM_004239.3:c.5811A>C | NP_004230.2:p.Gly1937= | |
| XM_005268214.2:c.4485A>C | XP_005268271.1:p.Gly1495= | |
| XM_005268215.2:c.2781A>C | XP_005268272.1:p.Gly927= | |
| XM_006720321.2:c.5808A>C | XP_006720384.1:p.Gly1936= | |
| NM_001321851.1:c.5808A>C | NP_001308780.1:p.Gly1936= | |
| NM_004239.4:c.5811A>C MANE Select | NP_004230.2:p.Gly1937= | |
| XM_017021787.2:c.5106A>C | XP_016877276.1:p.Gly1702= | |
| XM_017021788.2:c.4485A>C | XP_016877277.1:p.Gly1495= |