Linked Data
dbSNP Id:
rs771953608
ExAC:
14:34269355 C / G
gnomAD v2:
14-34269355-C-G
gnomAD v4:
14-33800149-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.33800149C>G , CM000676.2:g.33800149C>G | GRCh38 |
| NC_000014.8:g.34269355C>G , CM000676.1:g.34269355C>G | GRCh37 |
| NC_000014.7:g.33339106C>G | NCBI36 |
| NG_013036.1:g.865897C>G | |
| NG_013036.2:g.865897C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356141.9:c.1842C>G MANE Select | ENSP00000348460.4:p.Arg614= | |
| ENST00000551634.6:c.1851C>G | ENSP00000448373.2:p.Arg617= | |
| ENST00000680362.1:c.1742C>G | ||
| ENST00000681323.1:c.793+2568C>G | ||
| ENST00000346562.6:c.1746C>G | ENSP00000319610.5:p.Arg582= | |
| ENST00000356141.8:c.1842C>G | ENSP00000348460.4:p.Arg614= | |
| ENST00000357798.9:c.1803C>G | ENSP00000350446.5:p.Arg601= | |
| ENST00000548645.5:c.1752C>G | ENSP00000448916.1:p.Arg584= | |
| ENST00000551492.5:c.1857C>G | ENSP00000450392.1:p.Arg619= | |
| ENST00000551634.5:c.1764C>G | ENSP00000448373.1:p.Arg588= | |
| NM_001164749.1:c.1842C>G | NP_001158221.1:p.Arg614= | |
| NM_001165893.1:c.1752C>G | NP_001159365.1:p.Arg584= | |
| NM_022123.2:c.1746C>G | NP_071406.1:p.Arg582= | |
| NM_173159.2:c.1803C>G | NP_775182.1:p.Arg601= | |
| XM_005267991.2:c.1863C>G | XP_005268048.1:p.Arg621= | |
| XM_005267992.2:c.1857C>G | XP_005268049.1:p.Arg619= | |
| XM_005267993.2:c.1803C>G | XP_005268050.1:p.Arg601= | |
| XM_011537067.1:c.1893C>G | XP_011535369.1:p.Arg631= | |
| XM_011537068.1:c.1884C>G | XP_011535370.1:p.Arg628= | |
| XM_011537069.1:c.1854C>G | XP_011535371.1:p.Arg618= | |
| XM_011537070.1:c.1797C>G | XP_011535372.1:p.Arg599= | |
| XM_011537071.1:c.1764C>G | XP_011535373.1:p.Arg588= | |
| XM_011537072.1:c.1743C>G | XP_011535374.1:p.Arg581= | |
| XM_011537073.1:c.1536C>G | XP_011535375.1:p.Arg512= | |
| XM_011537074.1:c.1536C>G | XP_011535376.1:p.Arg512= | |
| XM_005267991.3:c.1950C>G | XP_005268048.2:p.Arg650= | |
| XM_005267992.3:c.1944C>G | XP_005268049.2:p.Arg648= | |
| XM_011537067.2:c.1893C>G | XP_011535369.1:p.Arg631= | |
| XM_011537069.2:c.1941C>G | XP_011535371.2:p.Arg647= | |
| XM_011537070.2:c.1797C>G | XP_011535372.1:p.Arg599= | |
| XM_011537071.2:c.1851C>G | XP_011535373.2:p.Arg617= | |
| XM_011537072.2:c.1743C>G | XP_011535374.1:p.Arg581= | |
| XM_017021582.1:c.2001C>G | XP_016877071.1:p.Arg667= | |
| XM_017021583.1:c.1992C>G | XP_016877072.1:p.Arg664= | |
| XM_017021584.1:c.1911C>G | XP_016877073.1:p.Arg637= | |
| XM_017021585.1:c.1860C>G | XP_016877074.1:p.Arg620= | |
| XM_017021586.1:c.1536C>G | XP_016877075.1:p.Arg512= | |
| XM_017021587.1:c.1536C>G | XP_016877076.1:p.Arg512= | |
| XM_017021588.1:c.1536C>G | XP_016877077.1:p.Arg512= | |
| NM_001164749.2:c.1842C>G MANE Select | NP_001158221.1:p.Arg614= | |
| NM_001165893.2:c.1752C>G | NP_001159365.1:p.Arg584= | |
| NM_022123.3:c.1746C>G | NP_071406.1:p.Arg582= | |
| NM_173159.3:c.1803C>G | NP_775182.1:p.Arg601= | |
| NM_001394988.1:c.1797C>G | NP_001381917.1:p.Arg599= | |
| NM_001394989.1:c.1743C>G | NP_001381918.1:p.Arg581= |