Linked Data
dbSNP Id:
rs549995059
gnomAD v2:
7-150671817-C-A
gnomAD v3:
7-150974729-C-A
gnomAD v4:
7-150974729-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150974729C>A , CM000669.2:g.150974729C>A | GRCh38 |
| NC_000007.13:g.150671817C>A , CM000669.1:g.150671817C>A | GRCh37 |
| NC_000007.12:g.150302750C>A | NCBI36 |
| NG_008916.1:g.8198G>T , LRG_288:g.8198G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262186.10:c.289G>T MANE Select | ENSP00000262186.5:p.Ala97Ser | |
| ENST00000262186.9:c.289G>T | ENSP00000262186.5:p.Ala97Ser | |
| ENST00000430723.4:c.112G>T | ENSP00000387657.4:p.Ala38Ser | |
| ENST00000532957.5:n.512G>T | ||
| NM_000238.3:c.289G>T , LRG_288t1:c.289G>T | NP_000229.1:p.Ala97Ser | |
| NM_172056.2:c.289G>T , LRG_288t2:c.289G>T | NP_742053.1:p.Ala97Ser | |
| XM_011516186.1:c.289G>T | XP_011514488.1:p.Ala97Ser | |
| XM_011516186.3:c.289G>T | XP_011514488.1:p.Ala97Ser | |
| XM_017012196.1:c.112G>T | XP_016867685.1:p.Ala38Ser | |
| NM_000238.4:c.289G>T MANE Select | NP_000229.1:p.Ala97Ser |