Linked Data
ClinVar Variation Id:
724940
ClinVar RCV Id:
RCV000898934
dbSNP Id:
rs189054965
ExAC:
3:33038741 G / C
gnomAD v2:
3-33038741-G-C
gnomAD v3:
3-32997249-G-C
gnomAD v4:
3-32997249-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.32997249G>C , CM000665.2:g.32997249G>C | GRCh38 |
| NC_000003.11:g.33038741G>C , CM000665.1:g.33038741G>C | GRCh37 |
| NC_000003.10:g.33013745G>C | NCBI36 |
| NG_009005.1:g.104954C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307363.10:c.1830C>G MANE Select | ENSP00000306920.4:p.Thr610= | |
| ENST00000307363.9:c.1830C>G | ENSP00000306920.4:p.Thr610= | |
| ENST00000307377.12:c.1437C>G | ENSP00000305920.8:p.Thr479= | |
| ENST00000399402.7:c.1740C>G | ENSP00000382333.2:p.Thr580= | |
| NM_000404.2:c.1830C>G | NP_000395.2:p.Thr610= | |
| NM_000404.3:c.1830C>G | NP_000395.2:p.Thr610= | |
| NM_001079811.1:c.1740C>G | NP_001073279.1:p.Thr580= | |
| NM_001079811.2:c.1740C>G | NP_001073279.1:p.Thr580= | |
| NM_001135602.1:c.1437C>G | NP_001129074.1:p.Thr479= | |
| NM_001135602.2:c.1437C>G | NP_001129074.1:p.Thr479= | |
| NM_001317040.1:c.1974C>G | NP_001303969.1:p.Thr658= | |
| NM_000404.4:c.1830C>G MANE Select | NP_000395.3:p.Thr610= | |
| NM_001079811.3:c.1740C>G | NP_001073279.2:p.Thr580= | |
| NM_001135602.3:c.1437C>G | NP_001129074.2:p.Thr479= | |
| NM_001317040.2:c.1974C>G | NP_001303969.2:p.Thr658= | |
| NM_001393580.1:c.1734+16807C>G | NP_001380509.1:n.1734+16807C>G |