Linked Data
ClinVar Variation Id:
231183
ClinVar RCV Id:
RCV000388419
RCV000217918
RCV000275247
RCV000333745
RCV000765836
RCV000649461
RCV001818525
RCV001775682
dbSNP Id:
rs377632619
ExAC:
5:256513 C / T
gnomAD v2:
5-256513-C-T
gnomAD v3:
5-256398-C-T
gnomAD v4:
5-256398-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.256398C>T , CM000667.2:g.256398C>T | GRCh38 |
| NC_000005.9:g.256513C>T , CM000667.1:g.256513C>T | GRCh37 |
| NC_000005.8:g.309513C>T | NCBI36 |
| NG_012339.1:g.43158C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264932.11:c.1973C>T MANE Select | ENSP00000264932.6:p.Pro658Leu | |
| ENST00000651543.1:c.*706C>T | ENSP00000499215.1:n.*706C>T | |
| ENST00000264932.10:c.1973C>T | ENSP00000264932.6:p.Pro658Leu | |
| ENST00000503674.5:n.2145C>T | ||
| ENST00000504309.5:c.1730C>T | ENSP00000426514.1:p.Pro577Leu | |
| ENST00000507522.1:n.363C>T | ||
| ENST00000509082.1:n.150C>T | ||
| ENST00000509564.1:c.346C>T | ENSP00000421911.1:n.346C>T | |
| ENST00000510361.5:c.1829C>T | ENSP00000427703.1:p.Pro610Leu | |
| ENST00000511810.5:n.2720C>T | ||
| ENST00000514027.5:n.1928C>T | ||
| ENST00000515752.5:n.1559C>T | ||
| ENST00000515815.5:c.420C>T | ||
| ENST00000617470.4:c.1538C>T | ENSP00000484230.1:p.Pro513Leu | |
| NM_001294332.1:c.1829C>T | NP_001281261.1:p.Pro610Leu | |
| NM_004168.3:c.1973C>T | NP_004159.2:p.Pro658Leu | |
| XM_005248331.2:c.1730C>T | XP_005248388.1:p.Pro577Leu | |
| XM_011514072.1:c.1908+1892C>T | XP_011512374.1:n.1908+1892C>T | |
| XM_011514073.1:c.1665+1892C>T | XP_011512375.1:n.1665+1892C>T | |
| XR_925638.1:n.2041+1892C>T | ||
| NM_001330758.1:c.1730C>T | NP_001317687.1:p.Pro577Leu | |
| XM_011514072.2:c.1908+1892C>T | XP_011512374.1:n.1908+1892C>T | |
| XM_011514073.2:c.1665+1892C>T | XP_011512375.1:n.1665+1892C>T | |
| XM_017009685.2:c.*1442C>T | XP_016865174.1:n.*1442C>T | |
| XM_024446143.1:c.*1442C>T | XP_024301911.1:n.*1442C>T | |
| XR_002956167.1:n.4944C>T | ||
| NM_004168.4:c.1973C>T MANE Select | NP_004159.2:p.Pro658Leu | |
| NM_001294332.2:c.1829C>T | NP_001281261.1:p.Pro610Leu | |
| NM_001330758.2:c.1730C>T | NP_001317687.1:p.Pro577Leu |