Linked Data
gnomAD v4:
1-94056749-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94056749A>T , CM000663.2:g.94056749A>T | GRCh38 |
| NC_000001.10:g.94522305A>T , CM000663.1:g.94522305A>T | GRCh37 |
| NC_000001.9:g.94294893A>T | NCBI36 |
| NG_009073.1:g.69401T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370225.4:c.2234T>A MANE Select | ENSP00000359245.3:p.Ile745Asn | |
| ENST00000649773.1:c.2161-1434T>A | ENSP00000496882.1:n.2161-1434T>A | |
| ENST00000370225.3:c.2234T>A | ENSP00000359245.3:p.Ile745Asn | |
| ENST00000536513.5:c.-65+6425T>A | ENSP00000439707.2:n.-65+6425T>A | |
| NM_000350.2:c.2234T>A | NP_000341.2:p.Ile745Asn | |
| NM_000350.3:c.2234T>A MANE Select | NP_000341.2:p.Ile745Asn |