dbSNP:
gnomAD v4:
Revel Score:
ENST00000424184
0.108
ENST00000435052
0.108
ENST00000376007
0.108
ENST00000376033 (MANE Select)
0.108
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31628105C>G , CM000668.2:g.31628105C>G | GRCh38 |
| NC_000006.11:g.31595882C>G , CM000668.1:g.31595882C>G | GRCh37 |
| NC_000006.10:g.31703861C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376033.3:c.1631C>G MANE Select | ENSP00000365201.2:p.Thr544Arg | |
| ENST00000376007.8:c.1631C>G | ENSP00000365175.4:p.Thr544Arg | |
| ENST00000376033.2:c.1631C>G | ENSP00000365201.2:p.Thr544Arg | |
| NM_004638.3:c.1631C>G | NP_004629.3:p.Thr544Arg | |
| NM_080686.2:c.1631C>G | NP_542417.2:p.Thr544Arg | |
| XM_011514890.1:c.1631C>G | XP_011513192.1:p.Thr544Arg | |
| XM_017011274.1:c.1631C>G | XP_016866763.1:p.Thr544Arg | |
| NM_004638.4:c.1631C>G MANE Select | NP_004629.3:p.Thr544Arg | |
| NM_080686.3:c.1631C>G | NP_542417.2:p.Thr544Arg |