Linked Data
gnomAD v4:
20-2594727-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.2594727A>T , CM000682.2:g.2594727A>T | GRCh38 |
| NC_000020.10:g.2575373A>T , CM000682.1:g.2575373A>T | GRCh37 |
| NC_000020.9:g.2523373A>T | NCBI36 |
| NG_042834.1:g.63121A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000358864.2:c.934-98A>T MANE Select | ENSP00000351732.1:n.934-98A>T | |
| ENST00000644205.1:n.1093-98A>T | ||
| ENST00000358864.1:c.934-98A>T | ENSP00000351732.1:n.934-98A>T | |
| NM_080751.2:c.934-98A>T | NP_542789.2:n.934-98A>T | |
| XM_005260660.2:c.1009-98A>T | XP_005260717.1:n.1009-98A>T | |
| XM_005260660.4:c.1009-98A>T | XP_005260717.1:n.1009-98A>T | |
| XR_001754152.1:n.1143-98A>T | ||
| NM_080751.3:c.934-98A>T MANE Select | NP_542789.2:n.934-98A>T |