Linked Data
ClinVar Variation Id:
834753
dbSNP Id:
rs752686806
ExAC:
7:150644940 C / A
gnomAD v4:
7-150947852-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150947852C>A , CM000669.2:g.150947852C>A | GRCh38 |
| NC_000007.13:g.150644940C>A , CM000669.1:g.150644940C>A | GRCh37 |
| NC_000007.12:g.150275873C>A | NCBI36 |
| NG_008916.1:g.35075G>T , LRG_288:g.35075G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684241.1:n.3552G>T | ||
| ENST00000262186.10:c.2719G>T MANE Select | ENSP00000262186.5:p.Ala907Ser | |
| ENST00000330883.9:c.1699G>T | ENSP00000328531.4:p.Ala567Ser | |
| ENST00000262186.9:c.2719G>T | ENSP00000262186.5:p.Ala907Ser | |
| ENST00000330883.8:c.1699G>T | ENSP00000328531.4:p.Ala567Ser | |
| NM_000238.3:c.2719G>T , LRG_288t1:c.2719G>T | NP_000229.1:p.Ala907Ser | |
| NM_172057.2:c.1699G>T , LRG_288t3:c.1699G>T | NP_742054.1:p.Ala567Ser | |
| XM_011516185.1:c.2419G>T | XP_011514487.1:p.Ala807Ser | |
| XM_011516186.1:c.2693-161G>T | XP_011514488.1:n.2693-161G>T | |
| XM_011516185.2:c.2419G>T | XP_011514487.1:p.Ala807Ser | |
| XM_011516186.3:c.2693-161G>T | XP_011514488.1:n.2693-161G>T | |
| XM_017012195.1:c.2569G>T | XP_016867684.1:p.Ala857Ser | |
| XM_017012196.1:c.2542G>T | XP_016867685.1:p.Ala848Ser | |
| NM_000238.4:c.2719G>T MANE Select | NP_000229.1:p.Ala907Ser | |
| NM_172057.3:c.1699G>T | NP_742054.1:p.Ala567Ser |