Revel Score:
ENST00000276833
0.574
ENST00000301305 (MANE Select)
0.574
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00003344 (NFE)
Genomes Max Group AF
0.00001171 (NFE)
Exomes Max Group AF
0.00003347 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.144414291C>T , CM000670.2:g.144414291C>T | GRCh38 |
| NC_000008.10:g.145639675C>T , CM000670.1:g.145639675C>T | GRCh37 |
| NC_000008.9:g.145610483C>T | NCBI36 |
| NG_012234.2:g.7600G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301305.8:c.1120G>A MANE Select | ENSP00000301305.4:p.Gly374Arg | |
| ENST00000276833.9:c.1045G>A | ENSP00000276833.5:p.Gly349Arg | |
| ENST00000301305.7:c.1120G>A | ENSP00000301305.3:p.Gly374Arg | |
| NM_017767.2:c.1045G>A | NP_060237.2:p.Gly349Arg | |
| NM_130849.3:c.1120G>A | NP_570901.2:p.Gly374Arg | |
| XM_006716599.1:c.1120G>A | XP_006716662.1:p.Gly374Arg | |
| XM_011517153.1:c.838G>A | XP_011515455.1:p.Gly280Arg | |
| XM_024447188.1:c.838G>A | XP_024302956.1:p.Gly280Arg | |
| XM_024447189.1:c.838G>A | XP_024302957.1:p.Gly280Arg | |
| NM_001374839.1:c.838G>A | NP_001361768.1:p.Gly280Arg | |
| NM_017767.3:c.1045G>A | NP_060237.3:p.Gly349Arg | |
| NM_130849.4:c.1120G>A MANE Select | NP_570901.3:p.Gly374Arg |