Linked Data
ClinVar Variation Id:
472681
dbSNP Id:
rs749728488
ExAC:
3:52437207 T / C
gnomAD v2:
3-52437207-T-C
gnomAD v4:
3-52403191-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.52403191T>C , CM000665.2:g.52403191T>C | GRCh38 |
| NC_000003.11:g.52437207T>C , CM000665.1:g.52437207T>C | GRCh37 |
| NC_000003.10:g.52412247T>C | NCBI36 |
| NG_031859.1:g.11803A>G , LRG_529:g.11803A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000460680.6:c.1837A>G MANE Select | ENSP00000417132.1:p.Thr613Ala | |
| ENST00000296288.9:c.1783A>G | ENSP00000296288.5:p.Thr595Ala | |
| ENST00000460680.5:c.1837A>G | ENSP00000417132.1:p.Thr613Ala | |
| ENST00000466093.1:n.244A>G | ||
| ENST00000469613.5:c.120-350A>G | ||
| ENST00000478368.1:c.340A>G | ENSP00000420647.1:p.Thr114Ala | |
| NM_004656.3:c.1837A>G | NP_004647.1:p.Thr613Ala | |
| XM_011534149.1:c.1837A>G | XP_011532451.1:p.Thr613Ala | |
| XM_011534150.1:c.1837A>G | XP_011532452.1:p.Thr613Ala | |
| XM_011534151.1:c.1783A>G | XP_011532453.1:p.Thr595Ala | |
| XM_011534152.1:c.1837A>G | XP_011532454.1:p.Thr613Ala | |
| XM_011534149.3:c.1837A>G | XP_011532451.1:p.Thr613Ala | |
| XM_011534150.3:c.1837A>G | XP_011532452.1:p.Thr613Ala | |
| XM_011534151.3:c.1783A>G | XP_011532453.1:p.Thr595Ala | |
| XM_011534152.2:c.1837A>G | XP_011532454.1:p.Thr613Ala | |
| XM_017007303.2:c.1783A>G | XP_016862792.1:p.Thr595Ala | |
| NM_004656.4:c.1837A>G MANE Select | NP_004647.1:p.Thr613Ala |