gnomAD v4:
Joint Max Group AF
0.00000907 (SAS)
Exomes Max Group AF
0.0000096 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102846838C>T , CM000674.2:g.102846838C>T | GRCh38 |
| NC_000012.11:g.103240616C>T , CM000674.1:g.103240616C>T | GRCh37 |
| NC_000012.10:g.101764746C>T | NCBI36 |
| NG_008690.1:g.75765G>A | |
| NG_008690.2:g.116573G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553106.6:c.969+57G>A MANE Select | ENSP00000448059.1:n.969+57G>A | |
| ENST00000307000.7:c.954+57G>A | ENSP00000303500.2:n.954+57G>A | |
| ENST00000549247.6:n.728+57G>A | ||
| ENST00000551114.2:n.631+57G>A | ||
| ENST00000553106.5:c.969+57G>A | ENSP00000448059.1:n.969+57G>A | |
| ENST00000635477.1:c.74-2407G>A | ||
| ENST00000635528.1:n.484+57G>A | ||
| NM_000277.1:c.969+57G>A | NP_000268.1:n.969+57G>A | |
| XM_011538422.1:c.913-2407G>A | XP_011536724.1:n.913-2407G>A | |
| NM_000277.2:c.969+57G>A | NP_000268.1:n.969+57G>A | |
| NM_001354304.1:c.969+57G>A | NP_001341233.1:n.969+57G>A | |
| NM_000277.3:c.969+57G>A MANE Select | NP_000268.1:n.969+57G>A | |
| NM_001354304.2:c.969+57G>A | NP_001341233.1:n.969+57G>A |