Linked Data
dbSNP Id:
rs958084589
gnomAD v2:
5-145719762-G-A
gnomAD v3:
5-146340199-G-A
gnomAD v4:
5-146340199-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.146340199G>A , CM000667.2:g.146340199G>A | GRCh38 |
| NC_000005.9:g.145719762G>A , CM000667.1:g.145719762G>A | GRCh37 |
| NC_000005.8:g.145699955G>A | NCBI36 |
| NG_011885.1:g.6176G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000646991.2:c.772G>A MANE Select | ENSP00000495718.1:p.Ala258Thr | |
| ENST00000230732.4:c.772G>A | ENSP00000230732.4:p.Ala258Thr | |
| NM_002700.2:c.772G>A | NP_002691.1:p.Ala258Thr | |
| NM_002700.3:c.772G>A MANE Select | NP_002691.1:p.Ala258Thr |