Linked Data
dbSNP Id:
rs140472966
ExAC:
3:93593192 T / A
gnomAD v2:
3-93593192-T-A
gnomAD v3:
3-93874348-T-A
gnomAD v4:
3-93874348-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.93874348T>A , CM000665.2:g.93874348T>A | GRCh38 |
| NC_000003.11:g.93593192T>A , CM000665.1:g.93593192T>A | GRCh37 |
| NC_000003.10:g.95075882T>A | NCBI36 |
| NG_009813.1:g.104743A>T , LRG_572:g.104743A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000348974.5:c.1928A>T | ENSP00000330021.7:p.Asn643Ile | |
| ENST00000394236.9:c.1928A>T MANE Select | ENSP00000377783.3:p.Asn643Ile | |
| ENST00000407433.6:c.1883A>T | ENSP00000385794.2:p.Asn628Ile | |
| ENST00000647936.1:c.*31A>T | ENSP00000496822.1:n.*31A>T | |
| ENST00000648381.1:n.2096A>T | ||
| ENST00000648853.1:c.1886A>T | ENSP00000497262.1:p.Asn629Ile | |
| ENST00000650591.1:c.2024A>T | ENSP00000497376.1:p.Asn675Ile | |
| ENST00000394236.7:c.1928A>T | ENSP00000377783.3:p.Asn643Ile | |
| ENST00000407433.5:c.1535A>T | ENSP00000385794.1:p.Asn512Ile | |
| NM_000313.3:c.1928A>T , LRG_572t1:c.1928A>T | NP_000304.2:p.Asn643Ile | |
| NM_001314077.1:c.2024A>T , LRG_572t2:c.2024A>T | NP_001301006.1:p.Asn675Ile | |
| NM_000313.4:c.1928A>T MANE Select | NP_000304.2:p.Asn643Ile | |
| NM_001314077.2:c.2024A>T | NP_001301006.1:p.Asn675Ile |