Linked Data
dbSNP Id:
rs376318538
ExAC:
14:34269353 C / A
gnomAD v2:
14-34269353-C-A
gnomAD v4:
14-33800147-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.33800147C>A , CM000676.2:g.33800147C>A | GRCh38 |
| NC_000014.8:g.34269353C>A , CM000676.1:g.34269353C>A | GRCh37 |
| NC_000014.7:g.33339104C>A | NCBI36 |
| NG_013036.1:g.865895C>A | |
| NG_013036.2:g.865895C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356141.9:c.1840C>A MANE Select | ENSP00000348460.4:p.Arg614Ser | |
| ENST00000551634.6:c.1849C>A | ENSP00000448373.2:p.Arg617Ser | |
| ENST00000680362.1:c.1740C>A | ||
| ENST00000681323.1:c.793+2566C>A | ||
| ENST00000346562.6:c.1744C>A | ENSP00000319610.5:p.Arg582Ser | |
| ENST00000356141.8:c.1840C>A | ENSP00000348460.4:p.Arg614Ser | |
| ENST00000357798.9:c.1801C>A | ENSP00000350446.5:p.Arg601Ser | |
| ENST00000548645.5:c.1750C>A | ENSP00000448916.1:p.Arg584Ser | |
| ENST00000551492.5:c.1855C>A | ENSP00000450392.1:p.Arg619Ser | |
| ENST00000551634.5:c.1762C>A | ENSP00000448373.1:p.Arg588Ser | |
| NM_001164749.1:c.1840C>A | NP_001158221.1:p.Arg614Ser | |
| NM_001165893.1:c.1750C>A | NP_001159365.1:p.Arg584Ser | |
| NM_022123.2:c.1744C>A | NP_071406.1:p.Arg582Ser | |
| NM_173159.2:c.1801C>A | NP_775182.1:p.Arg601Ser | |
| XM_005267991.2:c.1861C>A | XP_005268048.1:p.Arg621Ser | |
| XM_005267992.2:c.1855C>A | XP_005268049.1:p.Arg619Ser | |
| XM_005267993.2:c.1801C>A | XP_005268050.1:p.Arg601Ser | |
| XM_011537067.1:c.1891C>A | XP_011535369.1:p.Arg631Ser | |
| XM_011537068.1:c.1882C>A | XP_011535370.1:p.Arg628Ser | |
| XM_011537069.1:c.1852C>A | XP_011535371.1:p.Arg618Ser | |
| XM_011537070.1:c.1795C>A | XP_011535372.1:p.Arg599Ser | |
| XM_011537071.1:c.1762C>A | XP_011535373.1:p.Arg588Ser | |
| XM_011537072.1:c.1741C>A | XP_011535374.1:p.Arg581Ser | |
| XM_011537073.1:c.1534C>A | XP_011535375.1:p.Arg512Ser | |
| XM_011537074.1:c.1534C>A | XP_011535376.1:p.Arg512Ser | |
| XM_005267991.3:c.1948C>A | XP_005268048.2:p.Arg650Ser | |
| XM_005267992.3:c.1942C>A | XP_005268049.2:p.Arg648Ser | |
| XM_011537067.2:c.1891C>A | XP_011535369.1:p.Arg631Ser | |
| XM_011537069.2:c.1939C>A | XP_011535371.2:p.Arg647Ser | |
| XM_011537070.2:c.1795C>A | XP_011535372.1:p.Arg599Ser | |
| XM_011537071.2:c.1849C>A | XP_011535373.2:p.Arg617Ser | |
| XM_011537072.2:c.1741C>A | XP_011535374.1:p.Arg581Ser | |
| XM_017021582.1:c.1999C>A | XP_016877071.1:p.Arg667Ser | |
| XM_017021583.1:c.1990C>A | XP_016877072.1:p.Arg664Ser | |
| XM_017021584.1:c.1909C>A | XP_016877073.1:p.Arg637Ser | |
| XM_017021585.1:c.1858C>A | XP_016877074.1:p.Arg620Ser | |
| XM_017021586.1:c.1534C>A | XP_016877075.1:p.Arg512Ser | |
| XM_017021587.1:c.1534C>A | XP_016877076.1:p.Arg512Ser | |
| XM_017021588.1:c.1534C>A | XP_016877077.1:p.Arg512Ser | |
| NM_001164749.2:c.1840C>A MANE Select | NP_001158221.1:p.Arg614Ser | |
| NM_001165893.2:c.1750C>A | NP_001159365.1:p.Arg584Ser | |
| NM_022123.3:c.1744C>A | NP_071406.1:p.Arg582Ser | |
| NM_173159.3:c.1801C>A | NP_775182.1:p.Arg601Ser | |
| NM_001394988.1:c.1795C>A | NP_001381917.1:p.Arg599Ser | |
| NM_001394989.1:c.1741C>A | NP_001381918.1:p.Arg581Ser |