Linked Data
dbSNP Id:
rs73426385
gnomAD v2:
7-94030622-G-A
gnomAD v3:
7-94401310-G-A
gnomAD v4:
7-94401310-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.94401310G>A , CM000669.2:g.94401310G>A | GRCh38 |
| NC_000007.13:g.94030622G>A , CM000669.1:g.94030622G>A | GRCh37 |
| NC_000007.12:g.93868558G>A | NCBI36 |
| NG_007405.1:g.11750G>A , LRG_2:g.11750G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297268.11:c.226-257G>A MANE Select | ENSP00000297268.6:n.226-257G>A | |
| ENST00000297268.10:c.226-257G>A | ENSP00000297268.6:n.226-257G>A | |
| ENST00000620463.1:c.220-257G>A | ENSP00000477719.1:n.220-257G>A | |
| NM_000089.3:c.226-257G>A , LRG_2t1:c.226-257G>A | NP_000080.2:n.226-257G>A | |
| NM_000089.4:c.226-257G>A MANE Select | NP_000080.2:n.226-257G>A |