Linked Data
gnomAD v4:
1-94030649-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94030649G>T , CM000663.2:g.94030649G>T | GRCh38 |
| NC_000001.10:g.94496205G>T , CM000663.1:g.94496205G>T | GRCh37 |
| NC_000001.9:g.94268793G>T | NCBI36 |
| NG_009073.1:g.95501C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370225.4:c.4254-123C>A MANE Select | ENSP00000359245.3:n.4254-123C>A | |
| ENST00000370225.3:c.4254-123C>A | ENSP00000359245.3:n.4254-123C>A | |
| ENST00000536513.5:c.630-123C>A | ENSP00000439707.2:n.630-123C>A | |
| NM_000350.2:c.4254-123C>A | NP_000341.2:n.4254-123C>A | |
| NM_000350.3:c.4254-123C>A MANE Select | NP_000341.2:n.4254-123C>A |