dbSNP:
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00000365 (SAS)
Exomes Max Group AF
0.00000385 (SAS)
Revel Score:
ENST00000553106 (MANE Select)
0.532
ENST00000307000
0.532
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102855216A>T , CM000674.2:g.102855216A>T | GRCh38 |
| NC_000012.11:g.103248994A>T , CM000674.1:g.103248994A>T | GRCh37 |
| NC_000012.10:g.101773124A>T | NCBI36 |
| NG_008690.1:g.67387T>A | |
| NG_008690.2:g.108195T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553106.6:c.626T>A MANE Select | ENSP00000448059.1:p.Ile209Asn | |
| ENST00000307000.7:c.611T>A | ENSP00000303500.2:p.Ile204Asn | |
| ENST00000549111.5:n.722T>A | ||
| ENST00000553106.5:c.626T>A | ENSP00000448059.1:p.Ile209Asn | |
| NM_000277.1:c.626T>A | NP_000268.1:p.Ile209Asn | |
| XM_011538422.1:c.626T>A | XP_011536724.1:p.Ile209Asn | |
| NM_000277.2:c.626T>A | NP_000268.1:p.Ile209Asn | |
| NM_001354304.1:c.626T>A | NP_001341233.1:p.Ile209Asn | |
| XM_017019370.2:c.626T>A | XP_016874859.1:p.Ile209Asn | |
| NM_000277.3:c.626T>A MANE Select | NP_000268.1:p.Ile209Asn | |
| NM_001354304.2:c.626T>A | NP_001341233.1:p.Ile209Asn |