Linked Data
ClinVar Variation Id:
224955
ClinVar RCV Id:
RCV000298002
RCV000343504
RCV000402055
RCV000426571
RCV000564874
RCV003316167
RCV004530261
RCV000210496
RCV001579978
dbSNP Id:
rs11557098
ExAC:
5:256451 C / T
gnomAD v2:
5-256451-C-T
gnomAD v3:
5-256336-C-T
gnomAD v4:
5-256336-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.256336C>T , CM000667.2:g.256336C>T | GRCh38 |
| NC_000005.9:g.256451C>T , CM000667.1:g.256451C>T | GRCh37 |
| NC_000005.8:g.309451C>T | NCBI36 |
| NG_012339.1:g.43096C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264932.11:c.1911C>T MANE Select | ENSP00000264932.6:p.Val637= | |
| ENST00000651543.1:c.*644C>T | ENSP00000499215.1:n.*644C>T | |
| ENST00000264932.10:c.1911C>T | ENSP00000264932.6:p.Val637= | |
| ENST00000503674.5:n.2083C>T | ||
| ENST00000504309.5:c.1668C>T | ENSP00000426514.1:p.Val556= | |
| ENST00000507522.1:n.316-15C>T | ||
| ENST00000509082.1:n.88C>T | ||
| ENST00000509564.1:c.284C>T | ENSP00000421911.1:p.Ser95Leu | |
| ENST00000510361.5:c.1767C>T | ENSP00000427703.1:p.Val589= | |
| ENST00000511810.5:n.2658C>T | ||
| ENST00000514027.5:n.1866C>T | ||
| ENST00000515752.5:n.1497C>T | ||
| ENST00000515815.5:c.358C>T | ||
| ENST00000617470.4:c.1476C>T | ENSP00000484230.1:p.Val492= | |
| NM_001294332.1:c.1767C>T | NP_001281261.1:p.Val589= | |
| NM_004168.3:c.1911C>T | NP_004159.2:p.Val637= | |
| XM_005248331.2:c.1668C>T | XP_005248388.1:p.Val556= | |
| XM_011514072.1:c.1908+1830C>T | XP_011512374.1:n.1908+1830C>T | |
| XM_011514073.1:c.1665+1830C>T | XP_011512375.1:n.1665+1830C>T | |
| XR_925638.1:n.2041+1830C>T | ||
| NM_001330758.1:c.1668C>T | NP_001317687.1:p.Val556= | |
| XM_011514072.2:c.1908+1830C>T | XP_011512374.1:n.1908+1830C>T | |
| XM_011514073.2:c.1665+1830C>T | XP_011512375.1:n.1665+1830C>T | |
| XM_017009685.2:c.*1380C>T | XP_016865174.1:n.*1380C>T | |
| XM_024446143.1:c.*1380C>T | XP_024301911.1:n.*1380C>T | |
| XR_002956167.1:n.4882C>T | ||
| NM_004168.4:c.1911C>T MANE Select | NP_004159.2:p.Val637= | |
| NM_001294332.2:c.1767C>T | NP_001281261.1:p.Val589= | |
| NM_001330758.2:c.1668C>T | NP_001317687.1:p.Val556= |