Linked Data
dbSNP Id:
rs199473537
gnomAD v2:
7-150646084-A-C
gnomAD v3:
7-150948996-A-C
gnomAD v4:
7-150948996-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150948996A>C , CM000669.2:g.150948996A>C | GRCh38 |
| NC_000007.13:g.150646084A>C , CM000669.1:g.150646084A>C | GRCh37 |
| NC_000007.12:g.150277017A>C | NCBI36 |
| NG_008916.1:g.33931T>G , LRG_288:g.33931T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000684241.1:n.3285T>G | ||
| ENST00000262186.10:c.2452T>G MANE Select | ENSP00000262186.5:p.Ser818Ala | |
| ENST00000330883.9:c.1432T>G | ENSP00000328531.4:p.Ser478Ala | |
| ENST00000262186.9:c.2452T>G | ENSP00000262186.5:p.Ser818Ala | |
| ENST00000330883.8:c.1432T>G | ENSP00000328531.4:p.Ser478Ala | |
| NM_000238.3:c.2452T>G , LRG_288t1:c.2452T>G | NP_000229.1:p.Ser818Ala | |
| NM_172057.2:c.1432T>G , LRG_288t3:c.1432T>G | NP_742054.1:p.Ser478Ala | |
| XM_011516185.1:c.2152T>G | XP_011514487.1:p.Ser718Ala | |
| XM_011516186.1:c.2452T>G | XP_011514488.1:p.Ser818Ala | |
| XM_011516185.2:c.2152T>G | XP_011514487.1:p.Ser718Ala | |
| XM_011516186.3:c.2452T>G | XP_011514488.1:p.Ser818Ala | |
| XM_017012195.1:c.2302T>G | XP_016867684.1:p.Ser768Ala | |
| XM_017012196.1:c.2275T>G | XP_016867685.1:p.Ser759Ala | |
| NM_000238.4:c.2452T>G MANE Select | NP_000229.1:p.Ser818Ala | |
| NM_172057.3:c.1432T>G | NP_742054.1:p.Ser478Ala |