gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001562 (AMR)
Exomes Max Group AF
0.00000929 (AMR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.37965591G>A , CM000670.2:g.37965591G>A | GRCh38 |
| NC_000008.10:g.37823109G>A , CM000670.1:g.37823109G>A | GRCh37 |
| NC_000008.9:g.37942266G>A | NCBI36 |
| NG_011936.1:g.6076C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000345060.5:c.879C>T MANE Select | ENSP00000343782.3:p.Thr293= | |
| ENST00000520341.2:n.1007C>T | ||
| ENST00000647937.1:c.363C>T | ENSP00000497740.1:p.Thr121= | |
| ENST00000345060.4:c.879C>T | ENSP00000343782.3:p.Thr293= | |
| ENST00000520341.1:n.154C>T | ||
| ENST00000614635.1:c.879C>T | ENSP00000480325.1:p.Thr293= | |
| NM_000025.2:c.879C>T | NP_000016.1:p.Thr293= | |
| NM_000025.3:c.879C>T MANE Select | NP_000016.1:p.Thr293= |