Linked Data
ClinVar Variation Id:
1326673
dbSNP Id:
rs766107961
ExAC:
12:102151420 T / A
gnomAD v2:
12-102151420-T-A
gnomAD v3:
12-101757642-T-A
gnomAD v4:
12-101757642-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.101757642T>A , CM000674.2:g.101757642T>A | GRCh38 |
| NC_000012.11:g.102151420T>A , CM000674.1:g.102151420T>A | GRCh37 |
| NC_000012.10:g.100675551T>A | NCBI36 |
| NG_021243.1:g.78226A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299314.12:c.3265A>T MANE Select | ENSP00000299314.7:p.Ser1089Cys | |
| ENST00000299314.11:c.3265A>T | ENSP00000299314.7:p.Ser1089Cys | |
| ENST00000549194.1:n.131A>T | ||
| ENST00000549738.5:c.16A>T | ENSP00000450161.1:p.Ser6Cys | |
| ENST00000550718.1:c.77A>T | ||
| NM_024312.4:c.3265A>T | NP_077288.2:p.Ser1089Cys | |
| XM_006719593.2:c.3265A>T | XP_006719656.1:p.Ser1089Cys | |
| XM_011538731.1:c.3184A>T | XP_011537033.1:p.Ser1062Cys | |
| XM_006719593.3:c.3265A>T | XP_006719656.1:p.Ser1089Cys | |
| XM_011538731.2:c.3184A>T | XP_011537033.1:p.Ser1062Cys | |
| XM_017019961.1:c.3049A>T | XP_016875450.1:p.Ser1017Cys | |
| XM_017019962.2:c.2038A>T | XP_016875451.1:p.Ser680Cys | |
| NM_024312.5:c.3265A>T MANE Select | NP_077288.2:p.Ser1089Cys |