Linked Data
dbSNP Id:
rs1801182
gnomAD v3:
7-94398387-T-A
gnomAD v4:
7-94398387-T-A
MyVariant Identifiers:
chr7:g.94027699T>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.94398387T>A , CM000669.2:g.94398387T>A | GRCh38 |
| NC_000007.13:g.94027699T>A , CM000669.1:g.94027699T>A | GRCh37 |
| NC_000007.12:g.93865635T>A | NCBI36 |
| NG_007405.1:g.8827T>A , LRG_2:g.8827T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000297268.11:c.87T>A MANE Select | ENSP00000297268.6:p.Thr29= | |
| ENST00000297268.10:c.87T>A | ENSP00000297268.6:p.Thr29= | |
| ENST00000620463.1:c.81T>A | ENSP00000477719.1:p.Thr27= | |
| NM_000089.3:c.87T>A , LRG_2t1:c.87T>A | NP_000080.2:p.Thr29= | |
| NM_000089.4:c.87T>A MANE Select | NP_000080.2:p.Thr29= |