gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000429 (NFE)
Exomes Max Group AF
0.00000381 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.15544227C>T , CM000681.2:g.15544227C>T | GRCh38 |
| NC_000019.9:g.15655038C>T , CM000681.1:g.15655038C>T | GRCh37 |
| NC_000019.8:g.15516038C>T | NCBI36 |
| NG_007987.1:g.40703C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269703.8:c.1084C>T MANE Select | ENSP00000269703.1:p.Arg362Ter | |
| ENST00000269703.7:c.1084C>T | ENSP00000269703.1:p.Arg362Ter | |
| ENST00000601005.2:c.1084C>T | ENSP00000469866.1:p.Arg362Ter | |
| NM_173483.3:c.1084C>T | NP_775754.2:p.Arg362Ter | |
| XM_011527692.1:c.1084C>T | XP_011525994.1:p.Arg362Ter | |
| XM_011527693.1:c.1084C>T | XP_011525995.1:p.Arg362Ter | |
| XM_011527692.2:c.1084C>T | XP_011525994.1:p.Arg362Ter | |
| XM_011527693.2:c.1084C>T | XP_011525995.1:p.Arg362Ter | |
| NM_173483.4:c.1084C>T MANE Select | NP_775754.2:p.Arg362Ter |