Linked Data
ClinVar Variation Id:
705887
dbSNP Id:
rs201755284
ExAC:
3:33038738 C / T
gnomAD v2:
3-33038738-C-T
gnomAD v3:
3-32997246-C-T
gnomAD v4:
3-32997246-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.32997246C>T , CM000665.2:g.32997246C>T | GRCh38 |
| NC_000003.11:g.33038738C>T , CM000665.1:g.33038738C>T | GRCh37 |
| NC_000003.10:g.33013742C>T | NCBI36 |
| NG_009005.1:g.104957G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307363.10:c.1833G>A MANE Select | ENSP00000306920.4:p.Ser611= | |
| ENST00000307363.9:c.1833G>A | ENSP00000306920.4:p.Ser611= | |
| ENST00000307377.12:c.1440G>A | ENSP00000305920.8:p.Ser480= | |
| ENST00000399402.7:c.1743G>A | ENSP00000382333.2:p.Ser581= | |
| NM_000404.2:c.1833G>A | NP_000395.2:p.Ser611= | |
| NM_000404.3:c.1833G>A | NP_000395.2:p.Ser611= | |
| NM_001079811.1:c.1743G>A | NP_001073279.1:p.Ser581= | |
| NM_001079811.2:c.1743G>A | NP_001073279.1:p.Ser581= | |
| NM_001135602.1:c.1440G>A | NP_001129074.1:p.Ser480= | |
| NM_001135602.2:c.1440G>A | NP_001129074.1:p.Ser480= | |
| NM_001317040.1:c.1977G>A | NP_001303969.1:p.Ser659= | |
| NM_000404.4:c.1833G>A MANE Select | NP_000395.3:p.Ser611= | |
| NM_001079811.3:c.1743G>A | NP_001073279.2:p.Ser581= | |
| NM_001135602.3:c.1440G>A | NP_001129074.2:p.Ser480= | |
| NM_001317040.2:c.1977G>A | NP_001303969.2:p.Ser659= | |
| NM_001393580.1:c.1734+16810G>A | NP_001380509.1:n.1734+16810G>A |