gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00406839 (SAS)
Genomes Max Group AF
0.00191463 (SAS)
Exomes Max Group AF
0.00412896 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68036557C>T , CM000673.2:g.68036557C>T | GRCh38 |
| NC_000011.9:g.67804024C>T , CM000673.1:g.67804024C>T | GRCh37 |
| NC_000011.8:g.67560600C>T | NCBI36 |
| NG_007878.1:g.2542C>T , LRG_115:g.2542C>T | |
| NG_017040.1:g.10941C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000313468.10:c.597C>T MANE Select | ENSP00000315774.5:p.Ile199= | |
| ENST00000313468.9:c.597C>T | ENSP00000315774.5:p.Ile199= | |
| ENST00000524810.5:c.529C>T | ||
| ENST00000528492.1:c.159C>T | ENSP00000432848.1:p.Ile53= | |
| ENST00000531282.1:n.449C>T | ||
| NM_002496.3:c.597C>T | NP_002487.1:p.Ile199= | |
| XM_005274013.1:c.597C>T | XP_005274070.1:p.Ile199= | |
| XM_005274014.1:c.597C>T | XP_005274071.1:p.Ile199= | |
| XM_005274015.1:c.477C>T | XP_005274072.1:p.Ile159= | |
| XM_011545053.1:c.597C>T | XP_011543355.1:p.Ile199= | |
| NM_002496.4:c.597C>T MANE Select | NP_002487.1:p.Ile199= |