Linked Data
ClinVar Variation Id:
239660
ClinVar RCV Id:
RCV000227636
RCV000563763
RCV000409751
RCV000998351
RCV001158018
RCV001158017
RCV001158019
RCV004529398
dbSNP Id:
rs191412461
ExAC:
5:256519 C / G
gnomAD v2:
5-256519-C-G
gnomAD v3:
5-256404-C-G
gnomAD v4:
5-256404-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.256404C>G , CM000667.2:g.256404C>G | GRCh38 |
| NC_000005.9:g.256519C>G , CM000667.1:g.256519C>G | GRCh37 |
| NC_000005.8:g.309519C>G | NCBI36 |
| NG_012339.1:g.43164C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264932.11:c.1979C>G MANE Select | ENSP00000264932.6:p.Ala660Gly | |
| ENST00000651543.1:c.*712C>G | ENSP00000499215.1:n.*712C>G | |
| ENST00000264932.10:c.1979C>G | ENSP00000264932.6:p.Ala660Gly | |
| ENST00000503674.5:n.2151C>G | ||
| ENST00000504309.5:c.1736C>G | ENSP00000426514.1:p.Ala579Gly | |
| ENST00000507522.1:n.369C>G | ||
| ENST00000509082.1:n.156C>G | ||
| ENST00000509564.1:c.352C>G | ENSP00000421911.1:n.352C>G | |
| ENST00000510361.5:c.1835C>G | ENSP00000427703.1:p.Ala612Gly | |
| ENST00000511810.5:n.2726C>G | ||
| ENST00000514027.5:n.1934C>G | ||
| ENST00000515752.5:n.1565C>G | ||
| ENST00000515815.5:c.426C>G | ||
| ENST00000617470.4:c.1544C>G | ENSP00000484230.1:p.Ala515Gly | |
| NM_001294332.1:c.1835C>G | NP_001281261.1:p.Ala612Gly | |
| NM_004168.3:c.1979C>G | NP_004159.2:p.Ala660Gly | |
| XM_005248331.2:c.1736C>G | XP_005248388.1:p.Ala579Gly | |
| XM_011514072.1:c.1908+1898C>G | XP_011512374.1:n.1908+1898C>G | |
| XM_011514073.1:c.1665+1898C>G | XP_011512375.1:n.1665+1898C>G | |
| XR_925638.1:n.2041+1898C>G | ||
| NM_001330758.1:c.1736C>G | NP_001317687.1:p.Ala579Gly | |
| XM_011514072.2:c.1908+1898C>G | XP_011512374.1:n.1908+1898C>G | |
| XM_011514073.2:c.1665+1898C>G | XP_011512375.1:n.1665+1898C>G | |
| XM_017009685.2:c.*1448C>G | XP_016865174.1:n.*1448C>G | |
| XM_024446143.1:c.*1448C>G | XP_024301911.1:n.*1448C>G | |
| XR_002956167.1:n.4950C>G | ||
| NM_004168.4:c.1979C>G MANE Select | NP_004159.2:p.Ala660Gly | |
| NM_001294332.2:c.1835C>G | NP_001281261.1:p.Ala612Gly | |
| NM_001330758.2:c.1736C>G | NP_001317687.1:p.Ala579Gly |