Linked Data
ClinVar Variation Id:
3201529
ClinVar RCV Id:
RCV004490874
dbSNP Id:
rs745486995
ExAC:
14:34269435 A / G
gnomAD v2:
14-34269435-A-G
gnomAD v3:
14-33800229-A-G
gnomAD v4:
14-33800229-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.33800229A>G , CM000676.2:g.33800229A>G | GRCh38 |
| NC_000014.8:g.34269435A>G , CM000676.1:g.34269435A>G | GRCh37 |
| NC_000014.7:g.33339186A>G | NCBI36 |
| NG_013036.1:g.865977A>G | |
| NG_013036.2:g.865977A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356141.9:c.1922A>G MANE Select | ENSP00000348460.4:p.Asn641Ser | |
| ENST00000551634.6:c.1931A>G | ENSP00000448373.2:p.Asn644Ser | |
| ENST00000680362.1:c.1822A>G | ||
| ENST00000681323.1:c.793+2648A>G | ||
| ENST00000346562.6:c.1826A>G | ENSP00000319610.5:p.Asn609Ser | |
| ENST00000356141.8:c.1922A>G | ENSP00000348460.4:p.Asn641Ser | |
| ENST00000357798.9:c.1883A>G | ENSP00000350446.5:p.Asn628Ser | |
| ENST00000548645.5:c.1832A>G | ENSP00000448916.1:p.Asn611Ser | |
| ENST00000551492.5:c.1937A>G | ENSP00000450392.1:p.Asn646Ser | |
| ENST00000551634.5:c.1844A>G | ENSP00000448373.1:p.Asn615Ser | |
| NM_001164749.1:c.1922A>G | NP_001158221.1:p.Asn641Ser | |
| NM_001165893.1:c.1832A>G | NP_001159365.1:p.Asn611Ser | |
| NM_022123.2:c.1826A>G | NP_071406.1:p.Asn609Ser | |
| NM_173159.2:c.1883A>G | NP_775182.1:p.Asn628Ser | |
| XM_005267991.2:c.1943A>G | XP_005268048.1:p.Asn648Ser | |
| XM_005267992.2:c.1937A>G | XP_005268049.1:p.Asn646Ser | |
| XM_005267993.2:c.1883A>G | XP_005268050.1:p.Asn628Ser | |
| XM_011537067.1:c.1973A>G | XP_011535369.1:p.Asn658Ser | |
| XM_011537068.1:c.1964A>G | XP_011535370.1:p.Asn655Ser | |
| XM_011537069.1:c.1934A>G | XP_011535371.1:p.Asn645Ser | |
| XM_011537070.1:c.1877A>G | XP_011535372.1:p.Asn626Ser | |
| XM_011537071.1:c.1844A>G | XP_011535373.1:p.Asn615Ser | |
| XM_011537072.1:c.1823A>G | XP_011535374.1:p.Asn608Ser | |
| XM_011537073.1:c.1616A>G | XP_011535375.1:p.Asn539Ser | |
| XM_011537074.1:c.1616A>G | XP_011535376.1:p.Asn539Ser | |
| XM_005267991.3:c.2030A>G | XP_005268048.2:p.Asn677Ser | |
| XM_005267992.3:c.2024A>G | XP_005268049.2:p.Asn675Ser | |
| XM_011537067.2:c.1973A>G | XP_011535369.1:p.Asn658Ser | |
| XM_011537069.2:c.2021A>G | XP_011535371.2:p.Asn674Ser | |
| XM_011537070.2:c.1877A>G | XP_011535372.1:p.Asn626Ser | |
| XM_011537071.2:c.1931A>G | XP_011535373.2:p.Asn644Ser | |
| XM_011537072.2:c.1823A>G | XP_011535374.1:p.Asn608Ser | |
| XM_017021582.1:c.2081A>G | XP_016877071.1:p.Asn694Ser | |
| XM_017021583.1:c.2072A>G | XP_016877072.1:p.Asn691Ser | |
| XM_017021584.1:c.1991A>G | XP_016877073.1:p.Asn664Ser | |
| XM_017021585.1:c.1940A>G | XP_016877074.1:p.Asn647Ser | |
| XM_017021586.1:c.1616A>G | XP_016877075.1:p.Asn539Ser | |
| XM_017021587.1:c.1616A>G | XP_016877076.1:p.Asn539Ser | |
| XM_017021588.1:c.1616A>G | XP_016877077.1:p.Asn539Ser | |
| NM_001164749.2:c.1922A>G MANE Select | NP_001158221.1:p.Asn641Ser | |
| NM_001165893.2:c.1832A>G | NP_001159365.1:p.Asn611Ser | |
| NM_022123.3:c.1826A>G | NP_071406.1:p.Asn609Ser | |
| NM_173159.3:c.1883A>G | NP_775182.1:p.Asn628Ser | |
| NM_001394988.1:c.1877A>G | NP_001381917.1:p.Asn626Ser | |
| NM_001394989.1:c.1823A>G | NP_001381918.1:p.Asn608Ser |