dbSNP:
gnomAD v4:
Revel Score:
ENST00000371175 (MANE Select)
0.743
ENST00000229810
0.743
ENST00000418071
0.743
ENST00000539403
0.743
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.49612504C>T , CM000668.2:g.49612504C>T | GRCh38 |
| NC_000006.11:g.49580217C>T , CM000668.1:g.49580217C>T | GRCh37 |
| NC_000006.10:g.49688176C>T | NCBI36 |
| NG_011704.1:g.29371G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371175.10:c.838G>A MANE Select | ENSP00000360217.4:p.Gly280Arg | |
| ENST00000646272.1:c.838G>A | ENSP00000494337.1:p.Gly280Arg | |
| ENST00000646874.1:n.528G>A | ||
| ENST00000646939.1:c.838G>A | ENSP00000494709.1:p.Gly280Arg | |
| ENST00000646963.1:c.838G>A | ENSP00000495337.1:p.Gly280Arg | |
| ENST00000229810.9:c.838G>A | ENSP00000229810.8:p.Gly280Arg | |
| ENST00000371175.8:c.838G>A | ENSP00000360217.4:p.Gly280Arg | |
| ENST00000618248.3:c.838G>A | ENSP00000482984.1:p.Gly280Arg | |
| NM_000324.2:c.838G>A | NP_000315.2:p.Gly280Arg | |
| NM_000324.3:c.838G>A MANE Select | NP_000315.2:p.Gly280Arg |