gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00000365 (SAS)
Exomes Max Group AF
0.00000385 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102846928A>G , CM000674.2:g.102846928A>G | GRCh38 |
| NC_000012.11:g.103240706A>G , CM000674.1:g.103240706A>G | GRCh37 |
| NC_000012.10:g.101764836A>G | NCBI36 |
| NG_008690.1:g.75675T>C | |
| NG_008690.2:g.116483T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553106.6:c.936T>C MANE Select | ENSP00000448059.1:p.Gly312= | |
| ENST00000307000.7:c.921T>C | ENSP00000303500.2:p.Gly307= | |
| ENST00000549247.6:n.695T>C | ||
| ENST00000551114.2:n.598T>C | ||
| ENST00000553106.5:c.936T>C | ENSP00000448059.1:p.Gly312= | |
| ENST00000635477.1:c.74-2497T>C | ||
| ENST00000635528.1:n.451T>C | ||
| NM_000277.1:c.936T>C | NP_000268.1:p.Gly312= | |
| XM_011538422.1:c.913-2497T>C | XP_011536724.1:n.913-2497T>C | |
| NM_000277.2:c.936T>C | NP_000268.1:p.Gly312= | |
| NM_001354304.1:c.936T>C | NP_001341233.1:p.Gly312= | |
| NM_000277.3:c.936T>C MANE Select | NP_000268.1:p.Gly312= | |
| NM_001354304.2:c.936T>C | NP_001341233.1:p.Gly312= |